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

The most noticeable signs of anencephaly are the missing parts of the skull, which are usually the bones in the back of the head. Some bones on the sides or front of the skull may also be missing or poorly formed. The brain also isn’t formed properly. Without a healthy cerebral cortex, a person can’t survive Other signs may include a folding of the ears, a  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

The anterior cruciate ligament (ACL) is one of the key ligaments that help stabilize the knee joint. The ACL connects the femur to the shinbone or the tibia. Anterior cruciate ligament tear is most commonly torn during sports that involve sudden stops and changes in direction.Prompt first-aid care can reduce pain and swelling immediately after an injury to your knee. Follow the R.I.C.E. model of self-care at home:1  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

The most common signs and symptoms of arthritis involve the joints. Depending on the type of arthritis you have, your signs and symptoms may include: Pain Stiffness Swelling Redness Decreased range of motion  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

There is no cure for juvenile rheumatoid arthritis, but there are medications that can help treat the symptoms. 1. The first step in treating juvenile rheumatoid arthritis is to control the inflammation that occurs in the joints. 2. Your doctor may prescribe a nonsteroidal anti-inflammatory drug (NSAID) like ibuprofen or naproxen or a corticosteroid like prednisone. These drugs are designed to reduce  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

The symptoms of CCAL2 usually begin as acute, recurring attacks of pain, swelling warmth and redness in one or more joints. Other affected people have swelling, stiffness, and pain with little or no inflammation. in the joints A knee, wrist, hip, or shoulder is most frequently affected, although any joint of the body may be involved. Acute episodes can last for days to weeks, and symptoms may subside without treatment. Calcium pyrophosphate (C  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

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

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

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

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

The symptoms and physical findings of mixed cryoglobulinemia can vary greatly from one individual to another. Many different organ symptoms can be potentially become involved. Some individuals will only exhibit one manifestation of the disorder; others will exhibit symptoms of multiple organ systems. Most affected individuals develop purplish discoloration of the skin due to bleeding underneath the skin from small blood vessels (purpur  Read More

Degenerative disc disease is a condition caused by the wearing down of the discs in your spine. The discs are cushions between each vertebrae that help absorb shock and keep bones separated, but as they get older, they become less effective at doing this.Sciatica is a painful condition caused by compression of the nerve root at the lower end of your spine. This can cause pain or tingling in one or both legs, which is often worse wh  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

The first signs and symptoms of CED are usually limb pain, a waddling gait, muscle weakness, and extreme tiredness. If the bones at the base of the skull are affected, the individual may experience headaches, hearing loss, vision problems, vertigo, tinnitus, and even facial paralysis. Additional musculoskeletal features include scoliosis, joint contractures, knock knees, and flat feet. The individual may also present with abnormally long limbs  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

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

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

Individuals with Ellis-Van Creveld syndrome typically have arms and legs that are abnormally short while the head and trunk are normal. Extra fingers (polydactyly) are present in all patients with this condition and both hands are usually affected. Ectodermal abnormalities include abnormal development of hair, nails and teeth. More than fifty percent of the patients with Ellis-Van Creveld syndrome are born with malformations of the hea  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

Though some cases of osteochondrosis can occur and heal without you even knowing, the most common symptom is pain near the affected joint. Pain can occur due to either physical activity or pressure applied to the area. Other symptoms may include: swelling tenderness joint popping joint locking joint weakness joint stiffness an inability to fully straighten the a  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

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 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 (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

Ischemic necrosis of bone is a degenerative condition of the bone characterized by the death of cellular components of the bone secondary to an interruption of the subchondral blood supply. It is also known as aseptic necrosis, avascular necrosis, and osteonecrosis. It primarily affects the tips of the long bones at weight-bearing joints. The commonly affected sites are the hip, femoral head, knee, talus, and humeral head.  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

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

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

ATD is characterized by abnormal development of the rib cage (thorax) resulting in a small thoracic cavity. The characteristic “bell-shaped” chest cavity restricts the growth of the lungs and results in a variable degree of lung hypoplasia and breathing problems (respiratory distress) in the newborn period. Other clinical features that can be apparent at birth include too many fingers and/or toes (polydactyly), mild to mode  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

There's no cure for a knee injury, but there are many things you can do to help manage your symptoms, including: 1. Rest and Ice The first line of defense for any knee injury is to rest the joint, and reduce inflammation. Use ice packs or a bag of frozen peas wrapped in a towel to reduce swelling and ease the pain. 2. Stretch It Out A lot of people don't realize that stretchi  Read More

Knee pain can be debilitating, especially when it prevents you from doing the activities you enjoy. Fortunately, there are many medications that can help relieve your knee pain and get back to your life. 1. Ibuprofen: Ibuprofen is a non-steroidal anti-inflammatory drug (NSAID) that works by reducing inflammation and swelling in the body. It's commonly used to treat back pain and arthritis, but can also help with k  Read More

People with Kniest dysplasia are known to have an unusually short stature; short, deformed arms and legs; a chest that is “barrel-shaped” and abnormally short; and a relatively long trunk. Later in life, short trunk dwarfism develops due to curvature of the spine and enlargement of the joints. People with Kniest dysplasia have an unusually flat face with protruding eyes, and a low nasal bridge. A cleft palate may also be pr  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 is a condition in which the spine curves abnormally, affecting the upper back and neck. It's most common in older people, but it can occur at any age. Kyphosis can be either congenital (present from birth) or acquired. The most common cause of acquired kyphosis is osteoporosis, which causes bones to become brittle and break easily. A person with kyphosis may experience pain in the upper back, stiffness in  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

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

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 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 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

Knee pain and swelling just below the kneecap are the main indicators of Osgood-Schlatter disease. Pain usually worsens during certain activities, such as running, kneeling and jumping, and eases with rest. The condition usually occurs in just one knee, but it can affect both knees. The discomfort can last from weeks to months and can recur until your child stops growing. When to see a doctor Call your child's doctor  Read More

Osteoarthritis symptoms often develop slowly and worsen over time. Signs and symptoms of osteoarthritis include: Pain. Your joint may hurt during or after movement. Tenderness. Your joint may feel tender when you apply light pressure to it. Stiffness. Joint stiffness may be most noticeable when you wake up in the morning or after a period of inactivity.  Read More

Depending on the joint that's affected, signs and symptoms of osteochondritis dissecans might include: Pain. This most common symptom of osteochondritis dissecans might be triggered by physical activity — walking up stairs, climbing a hill or playing sports. Swelling and tenderness. The skin around your joint might be swollen and tender. Joint popping or locking  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

The signs and symptoms of polymyalgia rheumatica usually occur on both sides of the body and might include: Aches or pain in your shoulders Aches or pain in your neck, upper arms, buttocks, hips or thighs Stiffness in affected areas, particularly in the morning or after being inactive for a time Limited range of motion in affected areas Pain or stiffness in your wrists, elbows or knees  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

Although researchers have been able to establish a clear syndrome with characteristic or “core” symptoms, much about the disorder is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of other genes influencing the disorder prevent physicians from developing a complete picture of the potential associated symptoms and prognosis. Therefore, it  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

Symptoms of Roussy-Lévy Syndrome are similar to other hereditary motor sensory neuropathies in that there is weakness and atrophy of the leg muscles with some loss of feeling. People with this syndrome have difficulty walking and a lack of reflexes and deformity of the foot or feet (pes cavus). Roussy-Lévy differs, however, from other hereditary motor sensory neuropathies because of the very early onset of the disorder during chi  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

CSS is characterized by distinctive abnormalities of the head and facial (craniofacial) region with affected individuals often described as having coarse facial features that become more prominent with age. Affected individuals may have an unusually small or large head (micro- or macrocephaly); a wide mouth with full, prominent lips; a broad nasal tip; a low nasal bridge; and an abnormally long vertical groove between the nose and the upper li  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

Tarsomegaly is induced mostly in dysplasia epiphysealis hemmeletica. "Dysplasia epiphysealis hemimelica (DEH), also known as Trevor disease, is an extremely rare, non-hereditary disease that is characterized by osteochondromas arising from the epiphyses.This disorder is rare and is characterized by an asymmetrical limb deformity due to localized overgrowth of cartilage, histologically resembling osteochondroma. It is bel  Read More

Tennis elbow is a type of tendinitis -- swelling of the tendons -- that causes pain in the elbow and arm. These tendons are bands of tough tissue that connect the muscles of your lower arm to the bone. Types of treatment that help are: 1. Icing the elbow to reduce pain and swelling. Experts recommend doing it for 20 to 30 minutes every 3 to 4 hours for 2 to 3 days or until the pain is gone. 2. Using an 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

Dysplasia epiphysealis hemimelica (DEH), also known as Trevor disease, is an extremely rare, non-hereditary disease that is characterized by osteochondromas arising from the epiphyses.This disorder is rare and is characterized by an asymmetrical limb deformity due to localized overgrowth of cartilage, histologically resembling osteochondroma. It is believed to affect the limb bud in early fetal life. The condition occurs  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

A skin condition called xanthoma tuberosum is where specific fats begin to build under the surface of the skin. A branched-out type of Xanthoma is Xanthoma Tuberosum. Here, Xanthoma accumulates in the areas close-by joints. It is affiliated with lipid disorders, liver cirrhosis, and some thyroid disorders.Symptoms of Xanthoma Tuberosum are as follows:1. Firm, elevated wax-like in appearance2  Read More