Osteopetrosis is characterized by overly dense bones throughout the body. Symptoms include fractures, low blood cell production, and loss of cranial nerve function causing blindness, deafness, and/or facial nerve paralysis. Affected individuals may experience frequent infections of teeth and the bone in the jaw. Osteopetrosis, Autosomal Recessive; Malignant Infantile Type The most severe type of osteopetrosis, malignant infantile type,  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

Arthritis is a disease that affects your joints and causes pain, swelling, and stiffness. There are many different types of arthritis, but the most common type is osteoarthritis. Osteoarthritis is caused by wear and tear on the joints over time. It's more common in older people, but it can happen at any age. Osteoarthritis can also be caused by injury or repetitive stress on the joints. 1. The most common medication i  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

Arthritis is a common condition that causes pain, swelling, and stiffness in the joints. It's one of the most common reasons for disability in the United States, and it affects many million people worldwide. Unfortunately, there's no cure for arthritis. But there are some treatments that can help manage symptoms and keep them under control. Here are some of your options: Medications: There are several different types available to treat arthriti  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

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

There is no cure for bacterial arthritis, but you can take certain medications to reduce the symptoms. 1. If you have bacterial arthritis, your doctor will prescribe antibiotics to help get rid of the bacteria and reduce inflammation. The most common antibiotic used for bacterial arthritis is doxycycline. It's usually taken twice a day for two to four weeks. 2. You may also want to try over-the-counte  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

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

Campomelic syndrome is a rare form of skeletal dysplasia characterized by bowing and an angular shape of the long bones of the legs. Eleven sets of ribs instead of the usual twelve may be present. The pelvis and shoulder blade may be underdeveloped. The skull may be large, long and narrow. The face may appear flat with forward tilting nostrils, high forehead, small chin, and cleft palate. Babies may regurgitate formula through the nose, are su  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

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

Early indications of mixed connective tissue disease can include: General feeling of being unwell. This malaise may be accompanied by increased fatigue and a mild fever. Cold and numb fingers or toes (Raynaud's disease). In response to cold or stress, your fingers or toes might turn white and then purplish blue. After warming, the fingers or toes turn red. Swollen fin  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

The symptoms of CFND vary greatly in number and severity among affected individuals. The most common symptoms of this disorder include widely spaced eyes (ocular hypertelorism), a vertical groove (cleft) on the tip of the nose, shoulder and limb abnormalities and/or underdevelopment of the middle portion of the face (e.g., forehead, nose, and/or chin). The head typically has an unusual shape due to premature closure of the fibrous joints (sutu  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

Diamond Blackfan anemia is characterized by moderate to severe deficiency of red blood cells (anemia). Sometimes white blood cells and platelets may be lower as well. Symptoms of anemia include rapid heartbeat, pale skin, sleepiness, irritability, poor appetite, and weakness. Approximately ninety percent of affected patients are diagnosed within the first year of life. The diagnosis is generally made by 3-4 months of age. Approximately  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 genetic disorder that causes abnormal bone growth. It can affect the shape of your bones, including your pelvis and spine. People with this condition may have short stature and have difficulty breathing due to an abnormally shaped chest. People with dyschondrosteosis typically have short arms and legs, a wide gap between their neck and trunk, an unusually shaped spine, an unusually curved pe  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

There are four distinct genes that control collagen synthesis. In individuals with OI, some or all of these genes may be impacted with ekman-lobstein disease. Type 1 OI through type 8 OI are the eight subtypes of brittle bone disease that can result from defective genes. The four primary OI categories are as follows: 1. The most prevalent and mildest form of brittle bone disease is type 1 OI. Your body creates hig  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

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

FSHD may initially involve weakness of muscles of the face, shoulder girdle and arms. Facial weakness may result in limited movements of the lips, causing difficulties whistling, using a straw, or puckering the lips. Affected individuals may also develop a distinctive “mask-like” facial appearance. Upper facial weakness may also lead to an inability to completely close the eyes during sleep. FSHD is also typically associate  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

Flatfoot (pes planus), commonly called flat feet, is a relatively common foot deformity. A flat foot is defined by the loss of the medial longitudinal arch of the foot where it contacts or nearly contacts the ground. The arch connects the forefoot and hindfoot and is formed of elastic ligaments, tendons, and fascia. Its function is to store mechanical energy within the stretched elastic ligaments during the gait cycle. A flat  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 typically develops slowly, and in three stages. Each stage can last a number of months. Freezing stage. Any movement of your shoulder causes pain, and your shoulder's range of motion starts to become limited. Frozen stage. Pain may begin to diminish during this stage. However, your shoulder becomes stiffer, and using it becomes more difficult. Thawing  Read More

Frozen shoulder (adhesive capsulitis) is a condition in which the movement of the shoulder becomes difficult due to stiffness. On the basis of symptoms and medical history, medications are decided. Diagnosis: 1. Physical examination of arms and shoulders are done. 2. Moving shoulder in all direction with the help of doctor 3. Passive range of motion and active range of  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

A herniated disc is a condition in which the annulus fibrosus is damaged, enabling the nucleus pulposus (which is normally located within the center of the disc) to displace and protrude off the center. It compresses the nerve or spinal and causes spinal cord dysfunction. Treatment The treatment is either surgical or non-surgical. 1. Non-surgical treatment -Non-surgical treatment is the primary a  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

HPP has remarkably wide-ranging severity. The six major clinical forms are separated based primarily upon the age when symptoms occur and the diagnosis is made. By decreasing severity, these forms are called perinatal, infantile, childhood (severe or mild), adult, and odontohypophosphatasia. Generally, HPP severity correlates with how much alkaline phosphatase activity remains in the body, with less enzyme activity causing more severe  Read More

Iliotibial band syndrome (it band syndrome) is an inflammatory disease caused by prolonged and rapid cycling of the knee through extension (straightening of the leg) and flexion. Treatment is of two types: non-operative and surgical treatment.1. Non-operative treatmentForemost, the affected person must refrain from activities that involve the knees.•Intermittent cryotherapy helps alle  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

In Jansen type metaphyseal chondrodysplasia, an extremely rare progressive disorder, 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), findings th  Read More

In Jansen type metaphyseal chondrodysplasia, an extremely rare progressive disorder, 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), findings th  Read More

In Jansen type metaphyseal chondrodysplasia, an extremely rare progressive disorder, 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), findings th  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

The location and severity of knee pain may vary, depending on the cause of the problem. Signs and symptoms that sometimes accompany knee pain include: Swelling and stiffness Redness and warmth to the touch Weakness or instability Popping or crunching noises Inability to fully straighten the knee When to see a doctor Call your doctor if you: Can't be  Read More

There is no cure for Kniest chondrodystrophy, but there are some medications that can help control symptoms. The most common treatment is a drug called prednisone, which can be used to treat inflammation and swelling associated with the disease. Doctors will also often prescribe pain relievers like ibuprofen or acetaminophen to help manage symptoms like joint pain and stiffness. Treatment options include surgery,  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 characterized by a painful swollen foot. The foot is especially tender along the length of the arch. It may include redness of the affected area. Putting weight on the foot or walking is difficult, causing further discomfort and a limp. For reasons that are not understood, the flow of blood to one of the bones in the foot (navicular bone) is interrupted, resulting in progressive degeneration of that bone.  Read More

Kohler disease is a rare bone disorder characterized by a painful swollen foot. The foot is especially tender along the length of the arch. It may include redness of the affected area. Putting weight on the foot or walking is difficult, causing further discomfort and a limp. For reasons that are not understood, the flow of blood to one of the bones in the foot (navicular bone) is interrupted, resulting in progressive degeneration of that bone.  Read More

Mild kyphosis may produce no noticeable signs or symptoms. But some people experience back pain and stiffness in addition to an abnormally curved spine. When to see a doctor Make an appointment with your doctor if you notice an increased curve in your upper back or in your child's spine.  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

Signs and symptoms of acute lymphocytic leukemia may include: Bleeding from the gums Bone pain Fever Frequent infections Frequent or severe nosebleeds Lumps caused by swollen lymph nodes in and around the neck, underarm, abdomen or groin Pale skin Shortness of breath Weakness, fatigue or a general decrease in energy When to see a doc  Read More

Lobstein disease (type I) osteogenesis imperfecta is a genetic disorder that causes bones to fracture easily. It's caused by a mutation in a gene called COL1A1. 1. The mutation causes the body to produce a defectively structured protein called collagen. Collagen helps give bones strength and flexibility. When it's defective, bones become weaker and more likely to break or deform. 2. People with Lobste  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 is characterized by overly dense bones throughout the body. Symptoms include fractures, low blood cell production, and loss of cranial nerve function causing blindness, deafness, and/or facial nerve paralysis. Affected individuals may experience frequent infections of teeth and the bone in the jaw. Osteopetrosis, Autosomal Recessive; Malignant Infantile Type The most severe type of osteopetrosis, malignant infantile type,  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

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

There is no cure for multiple osteochondromatosis, but There are many medications that can be used to treat multiple osteochondromatosis, but it is important to speak with your doctor about what is right for you. Here are some of the most common medications: 1. Pain relievers: These include acetaminophen (Tylenol) and nonsteroidal anti-inflammatory drugs such as ibuprofen (Advil). 2. Immunosuppressant  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

The specific symptoms, severity and progression of tethered cord syndrome vary from one individual to another. In most cases, individuals experience symptoms during childhood. In some cases, symptoms are stabilized in childhood, but become apparent only in adulthood. A high percentage of pediatric cases, with tethered cord syndrome show cutaneous tufts of hair, skin tags, dimples, benign fatty tumors, skin discoloration or hemangiomas.  Read More

Ollier disease is not always apparent at birth, but symptoms will usually become evident by early childhood. Between the ages of one and four years, abnormal and/or slow growth of arms and legs is often observed. Usually one leg and/or arm is affected, but both legs and/or arms may be involved. If both legs are involved, short stature may result; if only one leg is involved, then an affected individual may limp. The pelvis is sometimes  Read More

Ollier disease is not always apparent at birth, but symptoms will usually become evident by early childhood. Between the ages of one and four years, abnormal and/or slow growth of arms and legs is often observed. Usually one leg and/or arm is affected, but both legs and/or arms may be involved. If both legs are involved, short stature may result; if only one leg is involved, then an affected individual may limp. The pelvis is sometimes  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

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

Panmyelopathy describes a collection of symptoms that result from severe spinal compression. When something compresses (squeezes) the spinal cord, it can’t function properly. That can lead to pain, loss of feeling, or difficulty moving certain parts of the body. 1. The spine encases the spinal cord — a collection of nerves that carry messages between your brain and body. 2. Usually, the bones of  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

Conservative treatments — such as rest, ice, and physical therapy — sometimes are all that's needed to recover from a rotator cuff disease or injury. If your injury is severe, you might need surgery. 1. Therapy Physical therapy is usually one of the first treatments suggested. Exercises tailored to the specific location of your rotator cuff injury can help restore flexibility and strength to your should  Read More

Schuamann's disease or juvenile Kyphosis is a skeletal disorder where the growth of the vertebrae is uneven. The sagittal plane, or you can say the posterior angle is larger than the anterior angle. This results in the wedged shape of the vertebrae, leading to Kyphosis.The Risk Factors Of Schaumann's Disease are as follows:1. Diseases of the skeletal making (spine, spinal cord, connective tissue)2. Infe  Read More

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome is a rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism including. dolichocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or post pubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fin  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

Symptoms describe an individual’s experience of a medical disorder. Signs are the objective evidence of the disorder, documented, for example by physician examination, laboratory studies, or magnetic resonance images (MRI). The primary symptom of HSP is difficulty walking due to weakness and tightness (spasticity) in the legs. Both legs are affected, usually to a relatively similar degree. The term “paraplegia” means  Read More

Spinal muscular atrophy type 3 is an inherited progressive neurodegenerative disease. SMA is caused by alterations (mutations) in the genes that make proteins needed to support motor neuron function. The degree of genetic involvement determines what type of SMA you have as well as the severity of symptoms.1 Since SMA is a genetic condition, there are no specific lifestyle factors known to cause or prevent it.  Read More

The symptoms present in each child with DEH vary depending on the location and size of the cartilage mass. The most common is a painless mass or swelling on one side of an affected joint, particularly the medial side. Pain usually occurs at a later stage of the disease. Additional symptoms have been reported including decreased range of motion of affected joints, joint deformity, limb length discrepancy, and muscle wasting in the affec  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

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

The symptoms present in each child with DEH vary depending on the location and size of the cartilage mass. The most common is a painless mass or swelling on one side of an affected joint, particularly the medial side. Pain usually occurs at a later stage of the disease. Additional symptoms have been reported including decreased range of motion of affected joints, joint deformity, limb length discrepancy, and muscle wasting in the affec  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

The valgus calcaneus is one of the most common foot deformities in children (problem with the shape of the foot) wherein the foot points upward and outward. In extreme cases, the top of the foot touches the front of the lower leg. Calcaneovalgus causes the baby no pain and often goes away on its own.Signs and symptoms:1. The condition is congenital, meaning your child was born with it. It may affect one or bo  Read More

The symptoms of GSD depend upon the specific bones involved. The ribs, spine, pelvis, skull, collarbone (clavicle), and jaw are the most commonly affect bones in GSD. In some cases, affected individuals may rapidly develop pain and swelling in the affected area. In other cases, affected individuals may experience a dull pain or ache or generalized weakness that builds over time. Trauma is often a trigger of the initial presentation of the dise  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 syndrome is an extremely rare genetic 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. Affected in  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

Patients with ZARD can have multiple disabilities and health concerns. These can include orthopedic and musculoskeletal conditions and neurological/neuromuscular conditions. The most common clinical features include: • arthrogryposis multiplex congenita (multiple joint contractures before birth that involve at least two different body areas; sometimes caused by decreased fetal movement) • joint and soft-tissue abnormalities o  Read More

Wildervanck syndrome is typically characterized by three primary findings (triad). These include abnormal union or fusion of two or more bones of the spinal column (vertebrae) within the neck (Klippel-Feil syndrome); impairment or absence of certain eye (ocular) movements (Duane syndrome); and hearing impairment that is present at birth. However, according to some reports, this triad may be incomplete in some individuals with Wildervanck syndr  Read More

Many people with mild hypophosphatemia don’t have symptoms. Symptoms may not appear until your phosphate levels drop very low. When symptoms do occur, they can include: muscle weakness fatigue bone pain bone fractures appetite loss irritability numbness confusion slowed growth and shorter than normal height in children tooth d  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