Osteopetrosis may be inherited as either a dominant or recessive trait and is marked by increased bone density, brittle bones, and, in some cases, skeletal abnormalities. Although symptoms may not initially be apparent in people with mild forms of this disorder, trivial injuries may cause bone fractures due to abnormalities of the bone. There are three major types of osteopetrosis: the malignant infantile form, the intermediate for  Read More

A prolactinoma is a benign tumor of the pituitary gland (adenoma) that produces an excessive amount of the hormone prolactin. In women, hyperprolactinemia is characterized by irregular menstrual periods (amenorrhea), infertility and production of breast milk in women who are not pregnant (galactorrhea). The most common symptom in men is impotence.  Read More

Amyotrophic lateral sclerosis facts Amyotrophic lateral sclerosis is a rapidly progressive, invariably fatal neurological disease that attacks the nerve cells responsible for controlling voluntary muscles. Amyotrophic lateral sclerosis, or ALS, is sometimes called Lou Gehrig's disease. As many as 20,000 to 30,000 people in the United States have ALS, and an estimated 5,000 people in the United States are diag  Read More

Anencephaly facts Anencephaly is an example of a neural tube defect, a condition that results from an error in the first weeks of embryonic development. In anencephaly, the bones of the skull and brain do not develop properly. Babies with anencephaly are missing large areas of the brain and have an incomplete skull. Anencephaly affects about 1 out of every 1,000 pregnancies, but most cases end up as miscarria  Read More

Ankylosing spondylitis facts Ankylosing spondylitis belongs to a group of arthritis conditions that tend to cause chronic inflammation of the spine (spondyloarthropathies). Ankylosing spondylitis affects males two to three times more commonly than females. Ankylosing spondylitis is a cause of back pain in adolescents and young adults. The tendency to develop ankylosing spondylitis is genetically inh  Read More

Torn anterior cruciate ligament (ACL) facts The anterior cruciate ligament is one of the four ligaments in the knee that provides stabilization. Torn ACLs are a common knee injury. An ACL tear or sprain occurs when a sudden change in direction or pivot occurs on a locked knee. A pop, followed by pain and swelling of the knee are the most common symptoms of an ACL tear. Women are more likel  Read More

Antley-Bixler Syndrome is a rare genetic disorder that is primarily characterized by distinctive malformations of the head and facial (craniofacial) area and additional skeletal abnormalities. For example, the disorder is typically associated with premature closure of the fibrous joints (cranial sutures) between particular bones of the skull (craniosynostosis). Many affected infants and children also may have a prominent forehead, underdevelop  Read More

Polymyalgia rheumatica is a rare inflammatory disease characterized by muscle pain (myalgia), stiffness, and additional generalized systemic symptoms such as fatigue, low-grade fever, and/or a general feeling of ill health (malaise). Polymyalgia rheumatica can be a relatively benign condition that is extremely responsive to treatment. In some rare cases, permanent muscle weakness, degeneration and loss (atrophy) of muscle mass, and disability  Read More

Arthritis is the swelling and tenderness of one or more joints. The main symptoms of arthritis are joint pain and stiffness, which typically worsen with age. The most common types of arthritis are osteoarthritis and rheumatoid arthritis. Osteoarthritis causes cartilage — the hard, slippery tissue that covers the ends of bones where they form a joint — to break down. Rheumatoid arthritis is a disease in which the immune syst  Read More

Like many people with chronic ailments, sufferers of chronic arthritis are potentially vulnerable to proponents of heavily marketed "cure-all" treatments. These "quick fix" treatments are promoted as having great benefits, but in reality have no right to such claims. Quackery (the business of promoting unproven remedies) is recognized as a billion dollar industry. We feel the buyer should beware! Consumers should be especially  Read More

Infectious arthritis is an inflammation of one or more joints that occurs as a result of infection by bacteria, viruses or, less frequently, fungi or parasites. The symptoms of Infectious arthritis depend upon which agent has caused the infection but symptoms often include fever, chills, general weakness, and headaches, followed by inflammation and painful swelling of one or more joints of the body.Most often, the infection begins  Read More

Juvenile idiopathic arthritis, formerly known as juvenile rheumatoid arthritis, is the most common type of arthritis in children under the age of 16. Juvenile idiopathic arthritis can cause persistent joint pain, swelling and stiffness. Some children may experience symptoms for only a few months, while others have symptoms for many years. Some types of juvenile idiopathic arthritis can  Read More

Arthroscopy facts Arthroscopy is a surgical procedure that can be performed for diagnosis and/or treatment of joint abnormalities. Arthroscopy is most often an outpatient procedure. Arthroscopy can be performed using general, spinal, regional, or local anesthetic. The surgical incisions required for arthroscopy are several, approximately ¼ inch, on either side of the joint. Wh  Read More

Osteonecrosis, also known as avascular necrosis, is a disease resulting from the temporary or permanent loss of the blood supply to the bones. Without blood, the bone tissue dies and causes the bone to collapse. If the process involves the bones near a joint, it often leads to collapse of the joint surface. This disease also is known, aseptic necrosis, and ischemic bone necrosis.Although it can happen in any bone, osteonecrosis mos  Read More

Infectious arthritis is an inflammation of one or more joints that occurs as a result of infection by bacteria, viruses or, less frequently, fungi or parasites. The symptoms of Infectious arthritis depend upon which agent has caused the infection but symptoms often include fever, chills, general weakness, and headaches, followed by inflammation and painful swelling of one or more joints of the body.Most often, the infection begins  Read More

Baller-Gerold Syndrome is a rare genetic disorder that is apparent at birth (congenital). The disorder is characterized by distinctive malformations of the skull and facial (craniofacial) area and bones of the forearms and hands. In infants with Baller-Gerold Syndrome, there is premature fusion of the fibrous joints (cranial sutures) between certain bones in the skull (craniosynostosis). As a result, the head may appear unusually s  Read More

Bone spur facts A bone spur (osteophyte) is a tiny pointed outgrowth of bone. Bone spurs are usually caused by local inflammation, such as from degenerative arthritis or tendonitis. Bone spurs develop in areas of inflammation or injury of nearby cartilage or tendons. Bone spurs may or may not cause symptoms. When they do cause symptoms, the symptoms depend on their location. Bone spurs can  Read More

Bowen Hutterite syndrome is a rare genetic disorder that is apparent at birth (congenital). The disorder is characterized by growth delays before birth (intrauterine growth retardation); failure to grow and gain weight at the expected rate (failure to thrive) during infancy; malformations of the head and facial (craniofacial) area, resulting in a distinctive appearance; and other physical abnormalities. These may include restricted joint movem  Read More

Osteogenesis Imperfecta (OI) is a group of rare disorders affecting the connective tissue and characterized by extremely fragile bones that break or fracture easily (brittle bones), often without apparent cause. The specific symptoms and physical findings associated with OI vary greatly from case to case. The severity of OI also varies greatly, even among individuals of the same family. OI may be a mild disorder or may result in severe complic  Read More

Simpson dysmorphia syndrome types 1 and 2 are two forms of a rare, X-linked recessive, inherited disorder characterized by unusually large fetuses (prenatal overgrowth) and unusually large babies (postnatal overgrowth). In addition, affected individuals have characteristic facial features, more than two nipples (super-numerary nipples), and multisystemic malformations that may vary from child to child. Chief among these are cardiac malformatio  Read More

Bunions facts Bunions involve boney prominences and repositioning of the joints at the base of the big toes. Bunions most commonly affect the inner foot at the base of the big toe but also can affect the outside of the foot at the base of the little toe, referred to as a bunionette or tailor's bunion. Bunions most commonly affect women. Bunions may or may not cause symptoms. Treatment of b  Read More

Familial articular chondrocalcinosis is a rare inherited metabolic disorder characterized by deposits of calcium pyrophosphate dihydrate crystals (CPPD) in one or more joint cartilages resulting in eventual damage to the joints. Symptoms may develop due to decreased activity of the enzyme nucleoside triphosphate pyrophosphohydrolase. The symptoms of familial articular chondrocalcinosis mimic those of classical gout and may include swelling, st  Read More

Campomelic syndrome is a rare congenital disorder in which multiple anomalies are present. It is characterized by bowing and angular shape of the long bones of the legs, especially the tibia; multiple minor anomalies of the face; cleft palate; other skeletal anomalies such as abnormalities of the shoulder and pelvic area and eleven pairs of ribs instead of the usual twelve; underdevelopment of the trachea; developmental delay in some cases and  Read More

Campomelic syndrome is a rare congenital disorder in which multiple anomalies are present. It is characterized by bowing and angular shape of the long bones of the legs, especially the tibia; multiple minor anomalies of the face; cleft palate; other skeletal anomalies such as abnormalities of the shoulder and pelvic area and eleven pairs of ribs instead of the usual twelve; underdevelopment of the trachea; developmental delay in some cases and  Read More

Gordon syndrome is an extremely rare disorder that belongs to a group of genetic disorders known as the distal arthrogryposes. These disorders typically involve stiffness and impaired mobility of certain joints of the lower arms and legs (distal extremities) including the knees, elbows, wrists, and/or ankles. These joints tend to be permanently fixed in a bent or flexed position (contractures). Gordon syndrome is characterized by the permanent  Read More

Camptomelic syndrome is a rare congenital disorder in which multiple anomalies are present. It is characterized by bowing and angular shape of the long bones of the legs, especially the tibia; multiple minor anomalies of the face; cleft palate; other skeletal anomalies such as abnormalities of the shoulder and pelvic area and eleven pairs of ribs instead of the usual twelve; underdevelopment of the trachea; developmental delay in some cases an  Read More

Camptomelic syndrome is a rare congenital disorder in which multiple anomalies are present. It is characterized by bowing and angular shape of the long bones of the legs, especially the tibia; multiple minor anomalies of the face; cleft palate; other skeletal anomalies such as abnormalities of the shoulder and pelvic area and eleven pairs of ribs instead of the usual twelve; underdevelopment of the trachea; developmental delay in some cases an  Read More

Camptomelic syndrome is a rare congenital disorder in which multiple anomalies are present. It is characterized by bowing and angular shape of the long bones of the legs, especially the tibia; multiple minor anomalies of the face; cleft palate; other skeletal anomalies such as abnormalities of the shoulder and pelvic area and eleven pairs of ribs instead of the usual twelve; underdevelopment of the trachea; developmental delay in some cases an  Read More

Cerebral palsy facts Cerebral palsy (CP) is an abnormality of motor function, the ability to move and control movements. Cerebral palsy is acquired at an early age, usually less than a year of age. Cerebral palsy is due to a brain abnormality that does not progress in severity. The causes of cerebral palsy include prematurity, genetic disorders, strokes, and infection of the brain. Taking  Read More

Hajdu-Cheney syndrome (HCS) is a rare, heritable disorder of connective tissue; only about 50 cases have been reported in the medical literature. The breakdown of bone (osteolysis), especially the outermost bones of the fingers and toes (acroosteolysis), is a major characteristic of HCS. In addition, patients with HCS frequently have skull deformities, short stature, joint laxity, reduction of bone mass (osteoporosis) and other sig  Read More

Chondromalacia patella is abnormal softening of the cartilage of the underside the kneecap (patella). It is a cause of pain in the front of the knee (anterior knee pain). Chondromalacia patella is one of the most common causes of chronic knee pain. Chondromalacia patella results from degeneration of cartilage due to poor alignment of the kneecap (patella) as it slides over the lower end of the thighbone (femur). This process is sometimes refer  Read More

Cleidocranial dysplasia is a rare skeletal dysplasia characterized by short stature, distinctive facial features and narrow, sloping shoulders caused by defective or absent collarbones (clavicles). Major symptoms may include premature closing of the soft spot on the head (coronal), delayed closure of the space between the bones of the skull (fontanels), narrow and abnormally shaped pelvic and pubic bones and deformations in the chest (thoracic  Read More

Mixed connective tissue disease facts Connective tissues are the framework of the cells of the body. Mixed connective tissue disease is an "overlap" combination of connective tissue diseases. Diagnosis of mixed connective tissue disease is supported by detecting abnormal antibodies in the blood. Treatment of mixed connective tissue disease is directed at suppressing immune-related inflammation of ti  Read More

Freeman-Sheldon syndrome is a rare inherited disorder characterized by multiple contractures (i.e., restricted movement around two or more body areas) at birth (congenital), abnormalities of the head and face (craniofacial) area, defects of the hands and feet, and skeletal malformations. Craniofacial abnormalities may consist of characteristic facial features that cause the individual to appear to be whistling. These features include an extrem  Read More

Crouzon syndrome is a rare genetic disorder that may be evident at birth (congenital) or during infancy. The disorder is characterized by distinctive malformations of the skull and facial (craniofacial) region. Such abnormalities may vary greatly in range and severity from case to case, including among affected family members. However, in most infants with Crouzon syndrome, the fibrous joints between certain bones of the skull (cranial sutures  Read More

Craniofrontonasal dysplasia is a very rare inherited disorder characterized by abnormalities of the head and face (craniofacial area), hands and feet, and certain skeletal bones. Major symptoms of this disorder may include widely spaced eyes (ocular hypertelorism), a groove (cleft) on the tip of the nose, an unusually wide mouth, malformations of the fingers and toes, and/or underdevelopment of portions of the face (midface hypoplasia), such a  Read More

Mixed cryoglobulinemia is a rare disorder characterized by the presence of cryoglobulins in the blood. Cryoglobulins are abnormal proteins that thicken and clump together at cold temperatures, usually below 98.6 degrees Fahrenheit (the average human body temperature). However, the exact temperature at which this occurs may vary from one person to another. When these proteins clump together, they can restrict blood flow to joints, muscles, and  Read More

Degenerative disc disease and sciatica facts The discs of the spine serve as "cushions" between each vertebral segment. The discs are designed somewhat like a jelly donut. Degeneration (deterioration) of the disc makes the disc more susceptible to herniation (rupture), which can lead to localized or radiating pain. Sciatica can result from disc herniation ("ruptured disc") when nerves in the low bac  Read More

Blackfan-Diamond anemia (BDA) is a rare blood disorder that is caused by a failure of the bone marrow to generate enough red blood cells. It is characterized by deficiency of red blood cells at birth (congenital hypoplastic anemia) as well as slow growth, abnormal weakness and fatigue, paleness of the skin, characteristic facial abnormalities, protruding shoulder blades (scapulae), webbing or abnormal shortening of the neck due to fusion of ce  Read More

Hereditary multiple osteochondromas (HMO) is a rare genetic disorder characterized by multiple benign (noncancerous) bone tumors that are covered by cartilage (osteochondromas), often on the growing end (metaphysis) of the long bones of the legs, arms, and digits. These osteochondromas usually continue to grow until shortly after puberty and may lead to bone deformities, skeletal abnormalities, short stature, nerve compression and reduced rang  Read More

Camurati-Engelmann disease is a rare genetic disorder characterized by progressive widening and malformation of the shafts of the long bones (diaphyseal dysplasia). Major symptoms may include bone pain, particularly in the legs; skeletal abnormalities; and/or weakness and underdevelopment (hypoplasia) of various muscles. Pain and weakness of the leg muscles may result in an unusual "waddling" walk (gait). Camurati-Engelmann disease is inherite  Read More

Diastrophic dysplasia, which is also known as disastrophic dwarfism, is a rare disorder that is present at birth (congenital). The range and severity of associated symptoms and physical findings may vary greatly from case to case. However, the disorder is often characterized by short stature and unusually short arms and legs (short-limbed dwarfism); abnormal development of bones (skeletal dysplasia) and joints (joint dysplasia) in many areas o  Read More

Diastrophic dysplasia, which is also known as disastrophic dwarfism, is a rare disorder that is present at birth (congenital). The range and severity of associated symptoms and physical findings may vary greatly from case to case. However, the disorder is often characterized by short stature and unusually short arms and legs (short-limbed dwarfism); abnormal development of bones (skeletal dysplasia) and joints (joint dysplasia) in many areas o  Read More

Dislocated ankle facts An isolated dislocated ankle is a rare injury. Usually, there is an associated fracture of the bones that make up the ankle. The ankle dislocates as a result of a fall, motor-vehicle crash, or sporting injury. In addition to the bony injury, there can be damage to blood vessels, nerves, and skin. The diagnosis is often made clinically. The emergency treatment is to r  Read More

Dyggve-Melchior-Clausen (DMC) syndrome is a rare, progressive genetic disorder characterized by abnormal skeletal development, microcephaly and intellectual disability. The condition was first reported by Dyggve, Melchior and Clausen in 1962 in three of eight siblings where the father was the mother's paternal uncle. Because of physical appearance and the present of acid mucopolysaccharides in the urine, Dyggve believed that their affected pat  Read More

Dyschondrosteosis is a very rare inherited disorder characterized by unusually shortened, bowed bones in the forearms (radius and ulna), abnormal deviation of the wrist toward the thumb side of the hand due to shortening of the radius and dislocation of the end portion of the ulna (Madelung deformity), unusually short lower legs, and associated short stature (mesomelic dwarfism). Affected individuals may also exhibit abnormalities of the large  Read More

Dyskeratosis congenita is a rare genetic form of bone marrow failure, the inability of the marrow to produce sufficient blood cells. Dyskeratosis is Latin and means the irreversible degeneration of skin tissue, and congenita means inborn. First described in the medical literature in 1906, dyskeratosis congenita was originally thought to be a skin disease that also affects the nails and the mouth. Only later in the sixties was it realized that  Read More

Dysplasia epiphysealis hemimelica, also known as Trevor disease, is a rare skeletal developmental disorder of childhood. It is characterized by an overgrowth of cartilage on the ends (epiphyses) of the long bones of the arms and legs and the bones of the wrists (carpal bones) or the ankle (tarsal bones). The disorder may involve one epiphysis (localized) or multiple epiphyses. Most affected individuals develop a painless mass or swelling aroun  Read More

Osteogenesis Imperfecta (OI) is a group of rare disorders affecting the connective tissue and characterized by extremely fragile bones that break or fracture easily (brittle bones), often without apparent cause. The specific symptoms and physical findings associated with OI vary greatly from case to case. The severity of OI also varies greatly, even among individuals of the same family. OI may be a mild disorder or may result in severe complic  Read More

Elbow pain facts The elbow joint is the area of union of three long bones. Tendinitis can affect the inner or outer elbow. Treatment of tendinitis includes ice, rest, and medication for inflammation. Bacteria can infect the skin of the scraped (abraded) elbow. The "funny bone" nerve can be irritated at the elbow to cause numbness and tingling of the little and ring fingers.  Read More

Elephantiasis is a condition characterized by gross enlargement of an area of the body, especially the limbs. Other areas commonly affected include the external genitals. Elephantiasis is caused by obstruction of the lymphatic system, which results in the accumulation of a fluid called lymph in the affected areas. Functioning as part of the immune system, the lymphatic system helps to protect the body against infection and disease.  Read More

Elephantiasis is a condition characterized by gross enlargement of an area of the body, especially the limbs. Other areas commonly affected include the external genitals. Elephantiasis is caused by obstruction of the lymphatic system, which results in the accumulation of a fluid called lymph in the affected areas. Functioning as part of the immune system, the lymphatic system helps to protect the body against infection and disease.  Read More

Ellis-Van Creveld syndrome is a rare genetic disorder characterized by short limb dwarfism, additional fingers and/or toes (polydactyly), abnormal development of fingernails and, in over half of the cases, congenital heart defects. Motor development and intelligence are normal. This disorder is inherited as an autosomal recessive condition.  Read More

Ollier disease is a rare skeletal disorder characterized by abnormal bone development (skeletal dysplasia). While this disorder may be present at birth (congenital); it may not become apparent until early childhood when symptoms, such as deformities or improper limb growth, are more obvious. Ollier disease primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long  Read More

Dysplasia epiphysealis hemimelica, also known as Trevor disease, is a rare skeletal developmental disorder of childhood. It is characterized by an overgrowth of cartilage on the ends (epiphyses) of the long bones of the arms and legs and the bones of the wrists (carpal bones) or the ankle (tarsal bones). The disorder may involve one epiphysis (localized) or multiple epiphyses. Most affected individuals develop a painless mass or swelling aroun  Read More

Brachial plexus palsy, also known as Erb's palsy, is a paralysis or weakness of the arm caused by an injury to one or more nerves that control and supply the muscles of the shoulder and upper extremities (upper brachial plexus). It is more commonly seen in newborns (neonates) and is often the result of a difficult delivery. When it occurs in adults, the cause typically is an injury that has caused stretching, tearing or other trauma to the bra  Read More

Hereditary multiple osteochondromas (HMO) is a rare genetic disorder characterized by multiple benign (noncancerous) bone tumors that are covered by cartilage (osteochondromas), often on the growing end (metaphysis) of the long bones of the legs, arms, and digits. These osteochondromas usually continue to grow until shortly after puberty and may lead to bone deformities, skeletal abnormalities, short stature, nerve compression and reduced rang  Read More

Facioscapulohumeral muscular dystrophy (FSHD), also known as Landouzy-Dejerine muscular dystrophy, is a neuromuscular disorder. Symptom onset usually occurs in adolescence or early adulthood; however, less commonly, symptoms may become apparent as early as infancy or early childhood.The disorder is typically initially characterized by weakness of facial, shoulder, and/or upper arm muscles. Associated abnormalities may include an im  Read More

Congenital fiber type disproportion (CFTD) is a rare genetic muscle disease that is usually apparent at birth (congenital myopathy). It belongs to a group of muscle conditions called the congenital myopathies that tend to affect people in a similar pattern. Major symptoms may include loss of muscle tone (hypotonia) and generalized muscle weakness. Delays in motor development are common and people with more marked muscle weakness also have abno  Read More

You have flatfeet when the arches on the inside of your feet are flattened, allowing the entire soles of your feet to touch the floor when you stand up. A common and usually painless condition, flatfeet can occur when the arches don't develop during childhood. In other cases, flatfeet develop after an injury or from the simple wear-and-tear stresses of age. Flatfeet can sometimes contri  Read More

Treacher Collins syndrome (TCS) is a rare genetic disorder characterized by distinctive abnormalities of the head and face area resulting from underdevelopment (hypoplasia) of certain facial structures including the jaw, cheekbones and nearby structures (zygomatic complex). Craniofacial abnormalities tend to involve the cheekbones, jaws, mouth, ears, and/or eyes. In addition to the various facial abnormalities, affected individuals may have ma  Read More

Frozen shoulder facts Frozen shoulder is the result of scarring, thickening, and shrinkage of the joint capsule. Any injury to the shoulder can lead to a frozen shoulder. A frozen shoulder is usually diagnosed during an examination. A frozen shoulder usually requires aggressive treatment. What is a frozen shoulder? A frozen shoulder is a shoulder joint with significant loss o  Read More

Frozen shoulder Frozen shoulder occurs when the connective tissue enclosing the joint becomes thickened and tight. Frozen shoulder, also known as adhesive capsulitis, is a condition characterized by stiffness and pain in your shoulder joint. Signs and symptoms typically begin gradually, worsen over time and then resolve, usually within one to three years. Your risk of developing frozen shoulder increases if you're recov  Read More

Acquired agranulocytosis is a rare, drug-induced blood disorder that is characterized by a severe reduction in the number of white blood cells (granulocytes) in the circulating blood. The name granulocyte refers to grain-like bodies within the cell. Granulocytes include basophils, eosinophils, and neutrophils. Acquired agranulocytosis may be caused by a variety of drugs. However, among the drugs to which a patient may be sensitive  Read More

Herniated disc facts The discs are pads that serve as "cushions" between the vertebral bodies, which minimize the impact of movement on the spinal column. Each disc is designed like a jelly donut with a central softer component (nucleus pulposus). Abnormal rupture of the central portion of the disc is referred to as a disc herniation. The most common location for a herniated disc to occur is in the  Read More

Hypermobility syndrome facts The joint hypermobility syndrome is a condition that features joints that easily move beyond the normal range expected for a particular joint. Hypermobile joints tend to be inherited. Symptoms of the joint hypermobility syndrome include pain in the knees, fingers, hips, and elbows. Often joint hypermobility causes no symptoms and requires no treatment. Treatments are cus  Read More

Hypophosphatasia is a inborn metabolic disorder of the bones characterized by skeletal defects resembling those of rickets. The symptoms result from a failure of bone mineral to be deposited in young, uncalcified bone (osteoid), and in the cartilage at the end of the long bones (epiphyses) during early years. The activity of the enzyme alkaline phosphatase in blood serum and bone cells is lower than normal. Urinary excretion and blood plasma c  Read More

If you’ve got a nagging pain on the outer part of your knee, especially if you’re a runner, it could be a symptom of iliotibial band (IT band) syndrome. It’s an injury often caused by activities where you bend your knee repeatedly, like running, cycling, hiking, and walking long distances. Your IT band is a thick bunch of fibers that runs from the outside of your hips to the outside of your thigh and knee down to the  Read More

Osteonecrosis, also known as avascular necrosis, is a disease resulting from the temporary or permanent loss of the blood supply to the bones. Without blood, the bone tissue dies and causes the bone to collapse. If the process involves the bones near a joint, it often leads to collapse of the joint surface. This disease also is known, aseptic necrosis, and ischemic bone necrosis.Although it can happen in any bone, osteonecrosis mos  Read More

wJansen type metaphyseal chondrodysplasia is an extremely rare progressive disorder in which portions of the bones of the arms and legs develop abnormally with unusual cartilage formations and subsequent abnormal bone formation at the large (bulbous) end portions (metaphyses) of these long bones (metaphyseal chondrodysplasia). As a result, affected individuals exhibit unusually short arms and legs and short stature (short-limbed dwarfism), fin  Read More

Jansen type metaphyseal chondrodysplasia is an extremely rare progressive disorder in which portions of the bones of the arms and legs develop abnormally with unusual cartilage formations and subsequent abnormal bone formation at the large (bulbous) end portions (metaphyses) of these long bones (metaphyseal chondrodysplasia). As a result, affected individuals exhibit unusually short arms and legs and short stature (short-limbed dwarfism), find  Read More

Jansen type metaphyseal chondrodysplasia is an extremely rare progressive disorder in which portions of the bones of the arms and legs develop abnormally with unusual cartilage formations and subsequent abnormal bone formation at the large (bulbous) end portions (metaphyses) of these long bones (metaphyseal chondrodysplasia). As a result, affected individuals exhibit unusually short arms and legs and short stature (short-limbed dwarfism), find  Read More

Asphyxiating thoracic dystrophy is a very rare form of congenital dwarfism affecting the development of the bone structure, particularly of the chest (thorax) but also of the legs and arms. Typical, major characteristics include failure of the rib cage to develop correctly, kidney problems (renal failure due to polycystitis), and shortened bones of the arms and legs.  Read More

Dercum's disease is an extremely rare disorder characterized by multiple, painful growths consisting of fatty tissue (lipomas). These growths mainly occur on the trunk, the upper arms and upper legs and are found just below the skin (subcutaneously). Pain associated with Dercum's disease can often be severe. Pain may be caused by these growths pressing on nearby nerves. Dercum's disease mainly occurs in adults and more women are affected than  Read More

Kenny-Caffey syndrome type 2 (KCS2) is an extremely rare hereditary skeletal disorder characterized by thickening of the long bones, thin marrow cavities in the bones (medullary stenosis), and abnormalities affecting the head and eyes. Most cases are obvious at birth (congenital). The primary outcome of KCS2 is short stature. Intelligence is usually normal. Individuals with KCS may also have recurrent episodes of low levels of calcium in the b  Read More

Kenny-Caffey syndrome type 2 (KCS2) is an extremely rare hereditary skeletal disorder characterized by thickening of the long bones, thin marrow cavities in the bones (medullary stenosis), and abnormalities affecting the head and eyes. Most cases are obvious at birth (congenital). The primary outcome of KCS2 is short stature. Intelligence is usually normal. Individuals with KCS may also have recurrent episodes of low levels of calcium in the b  Read More

Kienbock Disease is an acquired bone disorder. Abnormalities of the lunate bone in the wrist develops following an injury or inflammation. Recurrent pain and stiffness occur in conjunction with thickening, swelling and tenderness in soft tissue overlying the lunate bone. The range of motion in the wrist may become limited.  Read More

Klippel-Feil syndrome (KFS) is a rare skeletal disorder primarily characterized by abnormal union or fusion of two or more bones of the spinal column (vertebrae) within the neck (cervical vertebrae). Some affected individuals may also have an abnormally short neck, restricted movement of the head and neck, and a low hairline at the back of the head (posterior hairline). The disorder is present at birth (congenital), but mild cases may go undia  Read More

Knee bursitis facts A bursa is a fluid-filled sac that functions as a gliding surface to reduce friction between moving tissues of the body. There are three major bursae of the knee. Bursitis is usually not infectious, but the bursa can become infected. Treatment of noninfectious bursitis includes rest, ice, and medications for inflammation and pain. Infectious bursitis is treated with antibiotics,  Read More

Knee injury facts The knee is one of the most common body parts to be injured. Types of knee injuries include sprains, strains, bursitis, dislocations, fractures, meniscus tears, and overuse injuries. Knee injuries are generally caused by twisting or bending force applied to the knee, or a direct blow, such as from sports, falls, or accidents. Risk factors for knee injury include overuse, improper t  Read More

Knee pain facts Knee pain is a common problem with many causes, from acute injuries to medical conditions. Knee pain can be localized or diffuse throughout the knee. Knee pain is often accompanied by physical restriction. A thorough physical examination will usually establish the diagnosis of knee pain. The treatment of knee pain depends on the underlying cause. The prognosis of  Read More

Kniest dysplasia is one of several forms of dwarfism that is caused by a change (mutation) in a gene known as COL2A1. This gene is involved in the production of a particular protein that forms type 2 collagen, which is essential for the normal development of bones and other connective tissue. Changes in the composition of type 2 collagen lead to abnormal skeletal growth and, thus, to a variety of dwarfing conditions known as skeletal dysplasia  Read More

Kniest dysplasia is one of several forms of dwarfism that is caused by a change (mutation) in a gene known as COL2A1. This gene is involved in the production of a particular protein that forms type 2 collagen, which is essential for the normal development of bones and other connective tissue. Changes in the composition of type 2 collagen lead to abnormal skeletal growth and, thus, to a variety of dwarfing conditions known as skeletal dysplasia  Read More

Kniest dysplasia is one of several forms of dwarfism that is caused by a change (mutation) in a gene known as COL2A1. This gene is involved in the production of a particular protein that forms type 2 collagen, which is essential for the normal development of bones and other connective tissue. Changes in the composition of type 2 collagen lead to abnormal skeletal growth and, thus, to a variety of dwarfing conditions known as skeletal dysplasia  Read More

Kohler disease is a rare bone disorder of the foot in children that may be the result of stress-related compression at a critical time during the period of growth. It is characterized by limping caused by pain and swelling in the foot. It most often occurs in children between the ages of three and seven, and it affects males five times more often than it does females. Typically, just one foot is affected.Children appear to grow out  Read More

Kohler disease is a rare bone disorder of the foot in children that may be the result of stress-related compression at a critical time during the period of growth. It is characterized by limping caused by pain and swelling in the foot. It most often occurs in children between the ages of three and seven, and it affects males five times more often than it does females. Typically, just one foot is affected.Children appear to grow out  Read More

Kohler disease is a rare bone disorder of the foot in children that may be the result of stress-related compression at a critical time during the period of growth. It is characterized by limping caused by pain and swelling in the foot. It most often occurs in children between the ages of three and seven, and it affects males five times more often than it does females. Typically, just one foot is affected.Children appear to grow out  Read More

Kyphosis facts There are three main types of kyphosis: postural, Scheuermann's, and congenital. Most cases of kyphosis do not require any treatment. Physical therapy and exercise are often effective in postural and Scheuermann's kyphosis. Surgery is recommended for congenital kyphosis and more severe cases of Scheuermann's kyphosis. What is kyphosis? The spine has a series of  Read More

Legg-Calvé-Perthes Disease (LCPD) is one of a group of disorders known as the Osteochondroses. The Osteochondroses typically are characterized by degeneration (avascular necrosis) and subsequent regeneration of the growing end of a bone (epiphyses). In Legg-Calvé-Perthes Disease, the growing end (epiphysis) of the upper portion (capital) of the thigh bone (femur) is affected. Researchers believe that an unexplained interruption o  Read More

Cri du chat syndrome (CdCS or 5p-) is a rare genetic disorder in which a variable portion of the short arm of chromosome 5 is missing or deleted (monosomic). Symptoms vary greatly from case to case depending upon the exact size and location of the deleted genetic material. Common symptoms include a distinctive cry that resembles the mewing of a cat, characteristic facial features, slow growth, and microcephaly, a condition that indicates that  Read More

Childhood acute lymphoblastic leukemia (ALL) is a type of cancer in which the bone marrow makes too many immature lymphocytes (a type of white blood cell). Childhood acute lymphoblastic leukemia (also called acute lymphocytic leukemia or ALL) is a cancer of the blood and bone marrow. This type of cancer usually gets worse quickly if it is not treated. It is the most common type of cancer in children. Normally, the bone marrow m  Read More

Osteogenesis Imperfecta (OI) is a group of rare disorders affecting the connective tissue and characterized by extremely fragile bones that break or fracture easily (brittle bones), often without apparent cause. The specific symptoms and physical findings associated with OI vary greatly from case to case. The severity of OI also varies greatly, even among individuals of the same family. OI may be a mild disorder or may result in severe complic  Read More

Split hand/split foot malformation (SHFM) is a genetic disorder characterized by the complete or partial absence of some fingers or toes, often combined with clefts in the hands or feet. There may also be the appearance of webbing between fingers or toes (syndactyly). This may give the hands and/or feet a claw-like appearance. There are many types and combinations of deformities that appear in split hand/split foot malformation. Th  Read More

Treacher Collins syndrome (TCS) is a rare genetic disorder characterized by distinctive abnormalities of the head and face area resulting from underdevelopment (hypoplasia) of certain facial structures including the jaw, cheekbones and nearby structures (zygomatic complex). Craniofacial abnormalities tend to involve the cheekbones, jaws, mouth, ears, and/or eyes. In addition to the various facial abnormalities, affected individuals may have ma  Read More

Osteopetrosis may be inherited as either a dominant or recessive trait and is marked by increased bone density, brittle bones, and, in some cases, skeletal abnormalities. Although symptoms may not initially be apparent in people with mild forms of this disorder, trivial injuries may cause bone fractures due to abnormalities of the bone. There are three major types of osteopetrosis: the malignant infantile form, the intermediate for  Read More

Marfan syndrome is a genetic disorder that affects connective tissue, which is the material between cells of the body that gives the tissues form and strength. Connective tissue is found all over the body and multiple organ systems may be affected in individuals with Marfan syndrome. The heart and blood vessels (cardiovascular), skeletal, and eye (ocular) systems are most often affected. Major symptoms include overgrowth of the long bones of t  Read More

Mucopolysaccharidoses, which are also known as mucopolysaccharide storage (MPS) diseases, are a group of rare genetic disorders caused by the deficiency of one of ten specific lysosomal enzymes. The lysosomes are particles bound in membranes within cells that break down certain fats and carbohydrates (mucopolysaccharides) into simpler molecules. The accumulation of these large, undegraded mucopolysaccharides in the cells of the body causes a n  Read More

Hereditary multiple osteochondromas (HMO) is a rare genetic disorder characterized by multiple benign (noncancerous) bone tumors that are covered by cartilage (osteochondromas), often on the growing end (metaphysis) of the long bones of the legs, arms, and digits. These osteochondromas usually continue to grow until shortly after puberty and may lead to bone deformities, skeletal abnormalities, short stature, nerve compression and reduced rang  Read More

Multiple epiphyseal dysplasia (MED) is a rare inherited spectrum of disorders characterized by malformation (dysplasia) of the "growing portion" or head of the long bones (epiphyses). Affected individuals may have an abnormally short thighbone (femur), unusually short hands and fingers, mild short stature, a waddling gait, and/or pain in the hips and knees. In some cases, painful swelling and inflammation of certain joints (arthritis) may be p  Read More

Hereditary multiple osteochondromas (HMO) is a rare genetic disorder characterized by multiple benign (noncancerous) bone tumors that are covered by cartilage (osteochondromas), often on the growing end (metaphysis) of the long bones of the legs, arms, and digits. These osteochondromas usually continue to grow until shortly after puberty and may lead to bone deformities, skeletal abnormalities, short stature, nerve compression and reduced rang  Read More

Antley-Bixler Syndrome is a rare genetic disorder that is primarily characterized by distinctive malformations of the head and facial (craniofacial) area and additional skeletal abnormalities. For example, the disorder is typically associated with premature closure of the fibrous joints (cranial sutures) between particular bones of the skull (craniosynostosis). Many affected infants and children also may have a prominent forehead, underdevelop  Read More

Pain located in the neck is a common medical condition. Neck pain can come from a number of disorders and diseases and can involve any of the tissues in the neck. Examples of common conditions causing neck pain are degenerative disc disease, neck strain, neck injury such as in whiplash, a herniated disc, or a pinched nerve. Neck pain can come from common infections, such as virus infection of the throat, leading to lymph node (gland) swelling  Read More

Tethered cord syndrome is a stretch-induced functional disorder associated with the fixation (tethering) effect of inelastic tissue on the caudal spinal cord, limiting its movement. This abnormal attachment is associated with progressive stretching and increased tension of the spinal cord as a child ages, potentially resulting in a variety of neurological and other symptoms. Due to the variation of the growth rate of the spinal cord and the sp  Read More

Ollier disease is a rare skeletal disorder characterized by abnormal bone development (skeletal dysplasia). While this disorder may be present at birth (congenital); it may not become apparent until early childhood when symptoms, such as deformities or improper limb growth, are more obvious. Ollier disease primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long  Read More

Ollier disease is a rare skeletal disorder characterized by abnormal bone development (skeletal dysplasia). While this disorder may be present at birth (congenital); it may not become apparent until early childhood when symptoms, such as deformities or improper limb growth, are more obvious. Ollier disease primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long  Read More

Nail-patella syndrome (NPS) is a rare genetic disorder that is usually apparent at birth or during early childhood. Although the symptoms and physical characteristics associated with NPS may vary, characteristic abnormalities tend to include improper development (dysplasia) of the fingernails and toenails; absence (aplasia) and/or underdevelopment (hypoplasia) of the knee caps (patellae); underdevelopment of certain bones and/or webbing of ski  Read More

Osgood-Schlatter condition (formerly known as Osgood-Schlatter's disease) is a painful condition characterized by tiny, microfractures of the bony bump in the lower leg bone (tibia) where the ligament from the kneecap (patella) is inserted into the tibia. The bump is known as the tibial tubercle. It is a disorder of the early teens, especially during a growth spurt, more likely to affect young men than young women, especially athletes of eithe  Read More

Osgood-Schlatter disease facts Osgood-Schlatter disease is a painful inflammation in the front of the bony leg below the knee. Osgood-Schlatter disease can cause local pain, inflammation, swelling, and calcification. Osgood-Schlatter disease can be diagnosed by the history and examination. Osgood-Schlatter disease can be helped by antiinflammation and pain-relieving medications, ice, and rest.  Read More

Osteoarthritis facts Osteoarthritis is a joint inflammation that results from cartilage degeneration. Osteoarthritis can be caused by aging, heredity, and injury from trauma or disease. The most common symptom of osteoarthritis is pain in the affected joint(s) after repetitive use. There is no blood test for the diagnosis of osteoarthritis. The goal of treatment in osteoarthritis is to red  Read More

Osteochondritis dissecans facts Osteochondritis dissecans is a joint condition whereby a variable amount of bone and its adjacent cartilage loses its blood supply. The cause of osteochondritis dissecans is often unknown. Symptoms include joint pain, stiffness, and even locking of the joint. Osteochondritis dissecans is best diagnosed with imaging studies. Arthroscopic surgery is a procedur  Read More

Osteomyelitis is an infection in a bone. Infections can reach a bone by traveling through the bloodstream or spreading from nearby tissue. Infections can also begin in the bone itself if an injury exposes the bone to germs. Smokers and people with chronic health conditions, such as diabetes or kidney failure, are more at risk of developing osteomyelitis. People who have diabetes may develop osteomyelitis in their feet if they have foot  Read More

Osteopenia facts Osteopenia is decreased bone density but not to the extent of osteoporosis. This decreased bone density leads to bone fragility and an increased chance of breaking a bone (fracture). Women over the age of 65 and any postmenopausal woman with risk factors for bone loss should be tested for osteopenia or osteoporosis. The DXA scan is a widely available and accurate method for diagnosing osteopenia or ost  Read More

Osteoporosis facts Osteoporosis is a condition of fragile bone with an increased susceptibility to fracture. Osteoporosis weakens bone and increases risk of bones breaking. Bone mass (bone density) decreases after 35 years of age, and bone loss occurs more rapidly in women after menopause. Key risk factors for osteoporosis include genetics, lack of exercise, lack of calcium and vitamin D, personal h  Read More

Paget's disease facts Paget's disease is a chronic bone disorder. Paget's disease frequently causes no symptoms. Paget's disease can cause pain in the bones or joints, headaches and hearing loss, pressure on nerves, increased head size, bowing of limb, or curvature of spine. Tests used to diagnose Paget's disease include X-rays, blood tests, and bone scanning. Paget's disease can lead to o  Read More

Acquired aplastic anemia is a rare disorder caused by profound, almost complete bone marrow failure. Bone marrow is the spongy substance found in the center of the bones of the body, in adults mainly the spine, pelvis, and large bones of the legs. The bone marrow produces specialized cells (hematopoietic stem cells) that grow and eventually develop into red blood cells (erythrocytes), white blood cells (leukocytes), and platelets. In acquired  Read More

Catel-Manzke syndrome is a rare genetic disorder characterized by distinctive abnormalities of the index fingers; the classic features of Pierre Robin syndrome; and, in some cases, additional physical findings. Pierre Robin syndrome refers to a sequence of abnormalities that may occur as a distinct syndrome or as part of another underlying disorder. Pierre Robin syndrome is characterized by an unusually small jaw (micrognathia), downward displ  Read More

Catel-Manzke syndrome is a rare genetic disorder characterized by distinctive abnormalities of the index fingers; the classic features of Pierre Robin syndrome; and, in some cases, additional physical findings. Pierre Robin syndrome refers to a sequence of abnormalities that may occur as a distinct syndrome or as part of another underlying disorder. Pierre Robin syndrome is characterized by an unusually small jaw (micrognathia), downward displ  Read More

Polymyalgia rheumatica and giant cell arteritis facts Polymyalgia rheumatica causes pain and stiffness in muscles and joints. Polymyalgia rheumatica is diagnosed by characteristic symptoms associated with abnormal blood testing for inflammation. Polymyalgia rheumatica is treated with low doses of cortisone medications. Giant cell arteritis is a result of inflammation of arteries. Giant cel  Read More

Psoriatic arthritis facts Psoriatic arthritis is a chronic disease characterized by a form of inflammation of the skin (psoriasis) and joints (inflammatory arthritis). Some 10%-15% of people with psoriasis also develop inflammation of joints (psoriatic arthritis). The first appearance of the skin disease (psoriasis) can be separated from the onset of joint disease (arthritis) by years. Psoriatic art  Read More

Infectious arthritis is an inflammation of one or more joints that occurs as a result of infection by bacteria, viruses or, less frequently, fungi or parasites. The symptoms of Infectious arthritis depend upon which agent has caused the infection but symptoms often include fever, chills, general weakness, and headaches, followed by inflammation and painful swelling of one or more joints of the body.Most often, the infection begins  Read More

Pycnodysostosis facts Pycnodysostosis is an inherited disorder of the bone. Pycnodysostosis causes short stature. Pycnodysostosis causes abnormally dense brittle bones. Pycnodysostosis causes the "soft spot" of a baby's skull to stay widely open. Pycnodysostosis is due to a defect in an enzyme: cathepsin K. Growth hormone treatment may increase growth in pycnodysostosis.  Read More

Relapsing polychondritis facts Relapsing polychondritis is an uncommon, chronic disorder of the cartilage. Relapsing polychondritis is characterized by recurrent episodes of painful inflammation. Relapsing polychondritis can involve all types of cartilage. Typical cartilage tissues affected include the ears, nose, and joints. There is no one specific test for diagnosing relapsing polychond  Read More

Rhabdomyolysis facts Rhabdomyolysis is the rapid destruction of skeletal muscle resulting in leakage into the urine of the muscle protein myoglobin. Rhabdomyolysis has many causes. Medications can cause muscle injury and rhabdomyolysis. Rhabdomyolysis can cause muscle pain and weakness. Blood levels of muscle enzymes, including CPK, SGOT, SGPT, and LDH, as well as blood and urine myoglobin  Read More

Rhinoplasty facts These procedures are done to change, correct, or repair the nose. A thorough discussion of the patient's goals, anticipated results, and possible surgical limitations is an essential part of pre-surgical planning. Surgery is usually done in an outpatient surgicenter facility under anesthesia. Assistance is required for the first day after surgery. Several office visits fo  Read More

What is the rotator cuff? The rotator cuff is the group of four tendons that stabilize the shoulder joint. The tendons hook up to the four muscles that move the shoulder in various directions. There are four muscles whose tendons form the rotator cuff: the subscapularis muscle, which moves the arm by turning it inward (internal rotation); the supraspinatus muscle, which is responsible for elevating the arm and moving it away fr  Read More

Roussy-Levy Syndrome, also known as hereditary areflexic dystasia, is a rare genetic neuromuscular disorder that typically becomes apparent during early childhood. The disorder is characterized by incoordination, poor judgment of movements (sensory ataxia), and absence of reflexes (areflexia) of the lower legs and, eventually, the hands; weakness and degeneration (atrophy) of muscles of the lower legs; abnormally high arches of the feet with i  Read More

Scapuloperoneal myopathy is a rare genetic disorder characterized by weakness and wasting of certain muscles. Symptoms are usually limited to the shoulder blade area (scapula) and the smaller of the two leg muscle groups below the knee (peroneal). Facial muscles may be affected in a few cases. The leg symptoms often appear before the shoulder muscles become weakened. The rate of progression of the disorder varies from case to case. This condit  Read More

Sarcoidosis is a multisystem disorder that most often affects individuals between 20 and 40 years of age. Females appear to be affected more frequently than males. Sarcoidosis is characterized by the abnormal formation of inflammatory masses or nodules (granulomas) consisting of certain granular white blood cells (modified macrophages or epithelioid cells) in certain organs of the body. The granulomas that are formed are thought to alter the n  Read More

Coffin-Siris syndrome is a rare genetic disorder that may be evident at birth (congenital). The disorder may be characterized by feeding difficulties and frequent respiratory infections during infancy, diminished muscle tone (hypotonia), abnormal looseness (laxity) of the joints, delayed bone age, and mental retardation. In addition, affected infants and children typically have short fifth fingers ("pinkies") and toes with underdeveloped (hypo  Read More

Weismann-Netter-Stuhl syndrome is an extremely rare genetic skeletal disorder characterized by the abnormal development of bone (osseousbo dysplasia). Affected individuals exhibit bowing of the long portions (shafts) of the shinbone (tibia) and the outer, smaller bone of the leg below the knee (fibula). In some individuals, other bones may also be affected, such as the ribs, pelvis, spinal column, and/or bones in the arms. Affected individuals  Read More

Dyggve-Melchior-Clausen (DMC) syndrome is a rare, progressive genetic disorder characterized by abnormal skeletal development, microcephaly and intellectual disability. The condition was first reported by Dyggve, Melchior and Clausen in 1962 in three of eight siblings where the father was the mother's paternal uncle. Because of physical appearance and the present of acid mucopolysaccharides in the urine, Dyggve believed that their affected pat  Read More

Hereditary spastic paraplegia (HSP) is a general term for an expanding group of rare genetic disorders characterized by slowly progressive weakness (paraplegia) and increased muscle tone and stiffness (spasticity) of leg muscles. The age of onset, rate of progression, associated symptoms, degree of muscle weakness and spasticity, and overall severity of HSP can vary greatly from one person to another, even among individuals with the same subty  Read More

Kugelberg Welander syndrome is a milder type of spinal muscular atrophy. It is a rare inherited neuromuscular disorder characterized by wasting and weakness in the muscles of the arms and legs, leading to walking difficulties in, and eventual loss of ambulation. Symptoms of Kugelberg Welander syndrome occur after 12 months of age. Patients learn to walk, may fall frequently and may have trouble walking up and down stairs at 2-3 years of age; s  Read More

Syringomyelia (sih-ring-go-my-E-lee-uh) is the development of a fluid-filled cyst (syrinx) within your spinal cord. Over time, the cyst may enlarge, damaging your spinal cord and causing pain, weakness and stiffness, among other symptoms. Syringomyelia has several possible causes, though the majority of cases are associated with a condition in which brain tissue protrudes into your spinal canal (Chiari malformation). Other caus  Read More

Dysplasia epiphysealis hemimelica, also known as Trevor disease, is a rare skeletal developmental disorder of childhood. It is characterized by an overgrowth of cartilage on the ends (epiphyses) of the long bones of the arms and legs and the bones of the wrists (carpal bones) or the ankle (tarsal bones). The disorder may involve one epiphysis (localized) or multiple epiphyses. Most affected individuals develop a painless mass or swelling aroun  Read More

Tennis elbow facts Tennis elbow is tendinitis of the outer elbow. Strain of an elbow tendon causes tennis elbow. Risks of tennis elbow include activities that can strain the elbow. Tennis elbow symptoms include dull pain and tenderness at the outer elbow often with a sensation of weakness and stiffness. A physician uses a patient's history and physical examination to diagnose tennis elbow.  Read More

Three M syndrome is an extremely rare genetic disorder characterized by low birth weight, short stature (dwarfism), characteristic abnormalities of the head and facial (craniofacial) area, distinctive skeletal malformations, and/or other physical abnormalities. Characteristic craniofacial malformations typically include a long, narrow head (dolichocephaly), an unusually prominent forehead (frontal bossing), and a triangular-shaped face with a  Read More

Total knee replacement facts Patients with severe destruction of the knee joint associated with progressive pain and impaired function may be candidates for total knee replacement. Osteoarthritis is the most common reason for knee replacement operation in the U.S. Risks of total knee replacement surgery have been identified. Physical therapy is an essential part of rehabilitation after total knee re  Read More

Weismann-Netter-Stuhl syndrome is an extremely rare inherited skeletal disorder characterized by the abnormal development of bone (osseous dysplasia). Affected individuals exhibit bowing of the long portions (shafts) of the shinbone (tibia) and the outer, smaller bone of the leg below the knee (fibula). In some individuals, other bones may also be affected, such as the ribs, pelvis, spinal column, and/or bones in the arms. The primary characte  Read More

Dysplasia epiphysealis hemimelica, also known as Trevor disease, is a rare skeletal developmental disorder of childhood. It is characterized by an overgrowth of cartilage on the ends (epiphyses) of the long bones of the arms and legs and the bones of the wrists (carpal bones) or the ankle (tarsal bones). The disorder may involve one epiphysis (localized) or multiple epiphyses. Most affected individuals develop a painless mass or swelling aroun  Read More

Turf toe is an injury to the underside of the big toe and joint at the base of the big toe. This joint, the first metatarsalphalangeal (MTP) joint, is commonly known as the "ball of the foot." Turf toe is specifically a sprain of the big toe joint. This injury may involve damage to ligaments, tendons, or bone separately or in combination. This injury, often is a result of playing on artificial surfaces, was first documented in American  Read More

Langerhans cell histiocytosis (LCH) is a spectrum of rare disorders characterized by overproduction (proliferation) and accumulation of a specific type of white blood cell (histiocyte) in the various tissues and organs of the body (lesions). The lesions may include certain distinctive Langerhans cells involved in certain immune responses, as well as other white blood cells (e.g.,lymphocytes, monocytes, eosinophils). Associated symptoms and fin  Read More

Schinzel syndrome, also known as ulnar-mammary syndrome, is a rare inherited disorder characterized by abnormalities of the bones of the hands and forearms in association with underdevelopment (hypoplasia) and dysfunction of certain sweat (apocrine) glands and/or the breasts (mammary glands). Abnormalities affecting the hands and/or forearms range from underdevelopment of the bone in the tip of the fifth finger (hypoplastic terminal phalanx) t  Read More

Clubfoot is a general term used to describe a group of deformities of the ankles and/or feet that are usually present at birth (congenital). The defect may be mild or severe and may affect one or both of the ankles and/or feet. Different forms of clubfoot may include talipes equinovarus in which the foot is turned inward and downward; calcaneal valgus in which the foot is angled at the heel with the toes pointing upward and outward; and metata  Read More

Gorham's disease (GD) is an extremely rare bone disorder; fewer than 200 cases are reported in the medical literature. It is characterized by bone loss (osteolysis) often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones.Although the disease may strike any of the bones of the body, it is more often recognized earlier  Read More

Osteogenesis Imperfecta (OI) is a group of rare disorders affecting the connective tissue and characterized by extremely fragile bones that break or fracture easily (brittle bones), often without apparent cause. The specific symptoms and physical findings associated with OI vary greatly from case to case. The severity of OI also varies greatly, even among individuals of the same family. OI may be a mild disorder or may result in severe complic  Read More

Weismann-Netter-Stuhl syndrome is an extremely rare inherited skeletal disorder characterized by the abnormal development of bone (osseous dysplasia). Affected individuals exhibit bowing of the long portions (shafts) of the shinbone (tibia) and the outer, smaller bone of the leg below the knee (fibula). In some individuals, other bones may also be affected, such as the ribs, pelvis, spinal column, and/or bones in the arms. The primary characte  Read More

Stickler syndrome refers to a group of disorders of connective tissue. Connective tissue, which is distributed throughout the body, multiple organ systems can be affected. The specific symptoms present in Stickler syndrome often vary greatly from one individual to another. Affected individuals may not have all of the symptoms .The eyes, ears, skeleton and joints are most often affected. Affected individuals may also have distinctive facial fea  Read More

Wieacker syndrome is a rare, slowly progressive, genetic disorder characterized by deformities of the joints of the feet (contracture), muscle degeneration (atrophy), mild mental retardation and an impaired ability to move certain muscles of the eyes, face and tongue. Wieacker syndrome is inherited as an X-linked recessive trait.  Read More

Wildervanck syndrome, also known as cervicooculoacoustic syndrome, is a rare genetic disorder that primarily affects females. The disorder is characterized by a skeletal condition known as Klippel-Feil syndrome (KFS); abnormalities of certain eye (ocular) movements (i.e., Duane syndrome); and/or hearing impairment that is present at birth (congenital). In individuals with KFS, there is abnormal union or fusion of two or more bones  Read More

Familial hypophosphatemia is a rare inherited disorder characterized by impaired transport of phosphate and often altered vitamin-D metabolism in the kidneys. In addition, phosphate may not be well-absorbed in the intestines. The hypophosphatemia resulting from these impairments can lead to a skeletal defect called osteomalacia, which can be considered a softening of bones. Familial hypophosphatemia also results in rickets, a childhood bone di  Read More

Hyperlipoproteinemia type III, also known as dysbetalipoproteinemia or broad beta disease, is a rare genetic disorder characterized by improper breakdown (metabolism) of certain fatty materials known as lipids, specifically cholesterol and triglycerides. This results in the abnormal accumulation of lipids in the body (hyperlipidemia). Affected individuals may develop multiple yellowish, lipid-filled bumps (papules) or plaques on the skin (xant  Read More