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Glossary for Musculoskeletal conditions

  • 3-M Syndrome: A rare genetic condition which is characterized by distinctive physical features and severe growth retardation that starts during the fetal stage. Intelligence is not affected.
  • ACPS III: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
  • ADULT syndrome: A rare syndrome characterized by nail abnormalities, abnormal teeth development, tear duct obstruction, pigmentation anomalies and hand and foot abnormalities.
  • ATRUS syndrome: A rare syndrome characterized by fusion of the forearm bones near the elbow and a blood disorder.
  • Aarskog Syndrome: A rare genetic condition characterized by facial, hand, genital and growth abnormalities.
  • Aarskog-Ose-Pande syndrome: A rare disorder involving lipodystrophy mainly in the face and buttocks as well as sparse hair, retarded bone age and minor face and eye anomalies. It is considered a variant of SHORT syndrome which tends to also include increased range of joint motion and more extensive lipodystrophy.
  • Aase Smith syndrome: A rare hereditary syndrome characterized by deformities such as cleft palate, joint contractures and hypoplastic anemia.
  • Aase Syndrome: A genetic condition which results in anaemia and some skeletal and joint deformities
  • Aase syndrome 2: A rare genetic disorder characterized by blood abnormalities and thumb structure defects.
  • Aase-Smith I syndrome: A very rare hereditary syndrome characterized by deformities such as joint contractures, anemia, hydrocephalus and cleft palate.
  • Absence of gluteal muscle: The absence of the buttock (gluteal) muscles at birth. Spina bifida occulta (absence of back part of some vertebrae) was also present.
  • Absence of tibia: The congenital absence of the tibial bone which is the shin bone. One or both shin bones may be missing.
  • Absence of tibia with polydactyly: The congenital absence of the tibial bone which is the shin bone as well as the presence of extra fingers.
  • Absent patella: A rare genetic malformation where the kneecap is absent or reduced.
  • Absent patellae -- scrotal hypoplasia -- renal anomalies -- facial dysmorphism -- mental retardation: A rare syndrome characterized by absent kneecaps, underdeveloped scrotum, kidney anomalies, unusual facial appearance and mental retardation.
  • Acalvaria: A rare congenital condition where the skull cap is missing but the rest of the face and base of the skull is normal. The skin of the scalp simply covers the brain with no protective skull bone under it.
  • Acanthosis nigricans muscle cramps acral enlargement: A rare syndrome characterized mainly by muscle cramps, dark velvety patches of skin and large hands and feet.
  • Accessory muscle use: The use of the accessory muscles of respiration to maximize ones breathing
  • Accessory navicular bone: An abnormal bone that develops in the arch in the middle of the foot. Often there are no symptoms but if the bone is large it may rub against shoes and cause problems.
  • Achalasia microcephaly: A very rare syndrome characterized primarily by a small head and achalasia which involves esophageal problems such as enlargement.
  • Achard syndrome: An inherited connective tissue disorder characterized primarily by a short head, long, slender bones, recessed lower jaw and loose hand and foot joints.
  • Acheiropodia: A rare birth defect where infants are born without hands or feet.
  • Achilles tendinitis: A condition which is characterized by inflammation and tenderness located in the Achilles tendon of the leg
  • Achilles tendon contracture: A condition which is characterized by permanent contracture of the Achilles tendon of the leg
  • Achilles tendonitis: Condition causing pain and inflammation in the insertion point of the Achilles tendon, usually due to activities causing repeated stress on the tendon
  • Achondrogenesis: A group of disorders characterized by abnormal bone and cartilage development.
  • Achondrogenesis type 1A: A rare genetic disorder characterized by abnormal cartilage formation and growth of bones. Type 1A differs from other types by the origin of the genetic defect. Type 1A involves abnormal cartilage-forming cells (chondrocytes) whereas type 1B involves an abnormal cartilage matrix. Type 1B is the most severe disorder.
  • Achondrogenesis type 1A and 1B: A rare lethal genetic disorder characterized by a low nasal bridge, very short limbs and incomplete bone formation of lower spine.
  • Achondrogenesis type 1B: A rare lethal genetic disorder characterized by a low nasal bridge, very short limbs and incomplete bone formation of lower spine.
  • Achondrogenesis type 2: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death.
  • Achondrogenesis, Langer-Saldino Type: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death.
  • Achondrogenesis, type 3: Severely abnormal bone development which invariably results in death before or soon after birth. Type III may actually be a part of achondrogenesis type II.
  • Achondrogenesis, type 4: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death. It has been designated as a mild form of Langer-Saldino achondrogenesis.
  • Achondroplasia: A disorder characterized by problems with bone growth.
  • Achondroplasia regional -- dysplasia abdominal muscle: A rare syndrome characterized mainly by abnormal bone development of the ilium, ribs and abdominal muscles. The abdominal muscles tend to become more develope with increasing age.
  • Aconitase deficiency: A rare disorder where deficiency of an enzyme called aconitase results in muscle disease and intolerance to exercise.
  • Acquired Acroosteolysis, phalangeal type: A medical term for the slowly progressive destruction of the distal end of bones in the hands and feet. The condition may be inherited or may be acquired in occupations involving polyvinylcholoride plastic material.
  • Acral dysostosis -- dyserythropoiesis: A rare disorder characterized by hand and foot defects as well as a congenital form of anemia characterized by the production of abnormal red blood cells.
  • Acro coxo mesomelic dysplasia: A rare inherited form of dwarfism characterized mainly by shortening of the middle and end parts of the limbs.
  • Acro-pectoro-renal field defect: A very rare genetic syndrome characterized by abnormalities of the genital and urinary systems as well as the absence of chest muscles at birth.
  • Acro-reno-ocular syndrome: A disorder characterized by eye abnormalities, kidney defects and abnormalities of the arm and hand bones.
  • Acrocallosal Syndrome (Schinzel Type): A rare condition characterized by absence of portion of the brain (corpus callosum), mental deficiency, duplicated toes, mental deficiency and other abnormalities.
  • Acrocallosal syndrome: A rare genetic disorder characterized by underdeveloped or absent corpus callosum of brain, duplication of thumb or big toe and extra fingers or toes.
  • Acrocapitofemoral dysplasia: A rare inherited disorder characterized mainly by short limbs, dwarfism and cone-shaped epiphyses mainly in the hands and hips.
  • Acrocephalopolydactyly: A rare genetic condition characterized by limb abnormalities, extra digits and hydrocephalus. Other additional symptoms are variably present.
  • Acrocephalopolydactyly -- Cardiac Disease -- Ear, Skin and Lower Limb Defects: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
  • Acrocephalopolydactyly II: A rare genetic disorder characterized by head, hand and genital anomalies as well as mental retardation.
  • Acrocephalopolysyndactyly type III: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
  • Acrocephalopolysyndactyly, type 2 (ACPS 2): A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
  • Acrocephalosyndactyly: A group of inherited disorders characterized by abnormalities involving the skull, face, hands and feet. Apert, Pfeiffer and Crouzon syndrome are examples of various types of the disorder.
  • Acrocephalosyndactyly II: A rare inherited disorder characterized primarily by premature closure of skull bones, fusion of fingers and toes and eye and face abnormalities.
  • Acrocephalosyndactyly Syndrome type 5: A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
  • Acrocephalosyndactyly type 3 (ACPS 3): A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include brachycephaly, ear deformities as well as craniofacial, finger and bone abnormalities.
  • Acrocephalosyndactyly type 5 (ACPS 5): A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
  • Acrocephaly -- pulmonary stenosis -- mental retardation: A rare syndrome characterized by a pointy skull, narrowed pulmonary valve and mental retardation.
  • Acrodysplasia scoliosis: A rare inherited genetic disorder characterized by short fingers and toes, scoliosis and other spine anomalies.
  • Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia: A rare inherited disorder characterized by short stature, underdeveloped calf bones and abnormalities of the hand and foot bones.
  • Acrofacial dysostosis -- ambiguous genitalia: A rare disorder characterized mainly by ambiguous genitals and abnormal development of bones in the face, jaw, hands and feet.
  • Acrofacial dysostosis Catania form: One of a group of disorders characterized by defective limb and facial development. The Catania form is very rare.
  • Acrofacial dysostosis Preis type: One of a group of disorders characterized by defective limb and facial development. The Preis type is very rare and the range and severity of symptoms is variable.
  • Acrofacial dysostosis Rodriguez type: One of a group of disorders characterized by defective limb and facial development. The Rodriguez type is very rare and primarily involves severe limb and organ malformations.
  • Acrofacial dysostosis atypical postaxial: A rare genetic disorder characterized by absence of some fingers and toes and characteristic facial features.
  • Acrofacial dysostosis autosomal recessive: A rare inherited disorder characterized mainly by facial, hand and foot anomalies. The disorder resembles Nager syndrome.
  • Acrofacial dysostosis postaxial, atypical: A rare disorder characterized by an unusual facial appearance, short stature and hand and foot bone anomalies. The disorder may be related to the fact that the infants were born to mothers with diabetes.
  • Acrofacial dysostosis, Nager type: A rare genetic disorder characterized by underdeveloped thumbs, forearm and cheekbones as well as ear defects.
  • Acrofacial dysostosis, Palagonia type: One of a group of disorders characterized by defective limb and facial development. The Palagonia type is very rare and the symptoms are relatively mild.
  • Acrofacial dysostosis, Weyers type: A rare disorder characterized by facial abnormalities and extra digits, nail abnormalities and short limbs.
  • Acrofrontofacionasal dysostosis syndrome: A very rare syndrome characterized by abnormalities of the bones of the skeleton as well as mental retardation. Various facial, eye and urogenital anomalies are also present.
  • Acromegaly: A hormonal disorder involving excess growth hormone production by the pituitary gland.
  • Acromegaly due to growth hormone-secreting pituitary adenoma: Pituitary adenomas are benign monoclonal neoplasms of the anterior pituitary gland, accounting for approximately 15% of intracranial tumors.
  • Acromesomelic dysplasia: A rare genetic progressive skeletal disorder characterized by short limbs, a large head and lower thoracic kyphosis.
  • Acromesomelic dysplasia Brahimi Bacha type: A very rare genetic malformation syndrome characterized primarily by developmental abnormalities of the face and skeletal bones.
  • Acromesomelic dysplasia Campailla Martinelli type: A form of dwarfism where the main shortening occurs in the lower legs and arms.
  • Acromesomelic dysplasia Hunter Thompson type: A rare genetic syndrome characterized by various severe developmental abnormalities of the skeletal bones.
  • Acromesomelic dysplasia, Maroteaux type: A rare genetic syndrome characterized by various developmental abnormalities of the skeletal bones and facial anomalies.
  • Acroosteolysis: A medical term for the slowly progressive destruction of the distal end of bones in the hands and feet. The condition may be inherited or may be acquired in occupations involving polyvinylcholoride plastic material.
  • Acroosteolysis dominant type: A rare inherited connective tissue disorder characterized by breakdown of bone especially in the ends of the fingers and toes.
  • Acroosteolysis neurogenic: A very rare inherited condition characterized mainly by the loss of all sensations - the lose the ability to feel pain, temperature and touch. The loss of sensation generally starts at the toes and fingers and spreads up the limbs and the trunk may also be involved in some cases.
  • Acroosteolysis, phalangeal type: A medical term for the slowly progressive destruction of the distal end of bones in the hands and feet. The condition may be inherited or may be acquired in occupations involving polyvinylcholoride plastic material.
  • Acropectoral syndrome: A rare disorder characterized by extra fingers and toes, fusion of fingers and toes and anomalies involving the abdominal and chest wall.
  • Acropectorovertebral dysplasia: A rare inherited genetic disorder characterized by abnormalities involving the fingers, toes, palate and chest bones.
  • Acrorenal mandibular syndrome: A very rare condition characterized by a split hand or foot deformity, kidney abnormalities and underdeveloped lower jaw.
  • Acrorenal syndrome: A rare lethal syndrome characterized limb anomalies and kidney malformations.
  • Acrorenal syndrome recessive: A rare, recessively inherited disorder characterized by the association of kidney and hand and foot abnormalities.
  • Acrosphenosyndactylia: A rare condition characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally. Various toes and fingers may be fused together.
  • Acute gout: An acute condition which is caused by a disorder of purine or pyrimidine metabolism resulting in inflammatory arthritis
  • Adducted thumb syndrome recessive form: A rare recessively inherited disorder characterized mainly by a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.
  • Adducted thumbs -- arthrogryposis, Christian type: A rare recessively inherited disorder characterized mainly by a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.
  • Adducted thumbs Dundar type: A rare disorder characterized by a thumb abnormality as well as mental retardation, foot defects and other anomalies.
  • Adolescent idiopathic scoliosis: A condition which occurs to an adolescent without any known cause resulting in scoliosis of the spine
  • Adrenomyeloneuropathy: A form of X-linked adrenoleukodystrophy characterized by spinal cord dysfunction and brain involvement may or may not be present. Those with brain involvement suffer serious symptoms that can eventually lead to total disability and even death.
  • Adrenomyodystrophy: A rare genetic disorder characterized by primary adrenal insufficiency, dystrophic myopathy, severe psychomotor retardation and an overly-distended bladder which can cause death.
  • Adult SMA: Form of Spinal Muscular Atrophy in adults.
  • Adult hypophosphatasia: An rare inherited bone disorder due to an inborn error of metabolism characterized by a deficiency of alkaline phosphate. The condition involves the early loss of primary teeth and childhood rickets followed by a reasonable health until mid-adulthood when dental and skeletal abnormalities again become prevalent.
  • Adult onset Still's disease: A form of Still's disease that has a later onset and involves arthralgia or arthritis and a characteristic rash that often appears during periods of temperature increase.
  • Adult progressive spinal muscular atrophy, Aran Duchenne type: A group of inherited motor neuron diseases involving progressive muscle weakness, wasting and paralysis due to degeneration of motor neurons in the spinal cord. Muscle weakness and wasting usually starts in the hands and may gradually spread to other muscle groups.
  • Agammaglobulinemia -- microcephaly -- craniosynostosis -- severe dermatitis: A rare disorder characterized by a small head, agammaglobuliemia and severe dermatitis.
  • Agammaglobulinemia, microcephaly, and severe dermatitis: A rare disorder characterized by a small head, agammaglobuliemia and severe dermatitis.
  • Agenesis of the corpus callosum -- mental retardation -- coloboma -- micrognathia: A rare inherited disorder characterized by mental retardation, coloboma, small jaw and a brain anomaly.
  • Aglossia-Adactylia syndrome: A rare syndrome characterized mainly by the association of a missing tongue with missing fingers or toes. Other malformations are also variably present.
  • Aglossia-Hypoactylia syndrome: A rare syndrome characterized mainly by the association of a missing tongue with missing fingers or toes. Other malformations are also variably present.
  • Agnathia-holoprosencephaly-situs inversus: A very rare disorder characterized by a small or absent jaw, developmental brain defect and internal organs situated on the wrong side of the body (situs inversus). The severity and range of symptoms is variable.
  • Agnathia-microstomia-synotia: A rare disorder characterized by an absent or very small lower jaw, small mouth and ear lobes which are very close together or even fused (synotia).
  • Akaba-Hayasaka syndrome: A very rare syndrome characterized mainly by a prominent forehead, cloudy corneas, low nasal bridge, underdeveloped chest and short limbs.
  • Al Awadi syndrome: A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis.
  • Al Awadi-Raas-Rothschild syndrome: A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis. The exact type and severity of symptoms is variable. Most cases appear to occur in cases where the parents were related.
  • Al Gazali -- Nair syndrome: A very rare syndrome characterized by bone abnormalities, eye problems, seizures and developmental delay. The reported cases involved related parents.
  • Alajouanine syndrome: A birth disorder characterized mainly by clubfoot, strabismus and facial paralysis. The facial paralysis is caused by damage to the 6th and 7th cranial nerve.
  • Albers-Schonberg disease -- Adult benign dominant form: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The adult benign form is associated with a normal life expectancy and is often asymptomatic.
  • Albers-Schonberg disease -- intermediate form: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The intermediate form is more severe than the adult form but less severe than the infantile form. Life expectancy is usually normal.
  • Albers-Schonberg disease -- malignant recessive form: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The malignant infantile form is the most severe form of this disorder and death usually occurs in the first decade of life.
  • Albright like syndrome: A rare disorder characterized by mental retardation, short stature and finger and toe abnormalities.
  • Albright's hereditary osteodystrophy: A rare genetic disorder where the body fails to recognize and respond to the parathyroid hormone. The parathyroid hormone is involved in controlling the blood levels of calcium and phosphate.
  • Allain Babin Demarquez syndrome: A rare syndrome characterized by premature fusion of skullbones, abnormal development of skeletal bones and hypertension.
  • Allan-Herndon-Dudley Syndrome: A very rare inherited disorder characterized primarilty by mental retardation.
  • Allison atrophy: Wasting and loss of minerals in bones that are not used for periods of time. Astronauts have to ensure they do adequate exercise to prevent this condition.
  • Alopecia-contractures-dwarfism-mental retardation: A rare syndrome characterized primarily by mental retardation, short stature, lack of hair and contractures.
  • Alpha-sarcoglycanopathy: A rare genetic disorder involving progressive muscle weakness of the pelvic and shoulder muscles.
  • Alport Syndrome: A rare hereditary disorder involving the progressive deterioration of parts of the kidney resulting in chronic kidney disease.
  • Alternating Hemiplegia: Episodes of one-sided paralysis.
  • Alternating hemiplegia of childhood: A rare neurological disorder involving paralysis on one side of the body that is only temporary but occurs often. The extent of the paralysis is variable.
  • Alzheimer disease, familial, 3, with spastic paraparesis and apraxia: This form of Alzheimer's is an early-onset form of Alzheimer's that is linked to a defect on chromosome 14q24.3. It is characterized by features which are atypical for Alzheimer's - spastic paraparesis which occurs before the dementia symptoms and apraxia. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques: This form of Alzheimer's is an early-onset form of Alzheimer's that is linked to a defect on chromosome 14q24.3. It is characterized by features which are atypical for Alzheimer's - spastic paraparesis which occurs before the dementia symptoms and unusual plaques in the brain. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Amelia, autosomal recessive: A rare disorder characterized by the complete absence of the arms and a partial absence of the legs. The disorder has been described in the 3 fetuses of one family.
  • Ampola syndrome: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
  • Amputation: Loss of a limb or extremity from trauma or accident.
  • Amyopathic dermatomyositis: A rare disorder involving a skin rash that normally occurs with inflammation of skeletal muscles (dermatomyositis) but there is no muscle involvement. It is important to monitor patients in case muscle involvement develops.
  • Amyoplasia: A rare condition characterized by congenital joint stiffness.
  • Amyoplasia congenital disruptive sequence: A rare genetic disorder characterized by congenital contractures of two or more different joints.
  • Amyotonia congenita: A term used to describe conditions involving poor muscle tone that occurs from birth.
  • Amyotrophic lateral sclerosis: A motor neuron disease involving progressive degeneration and eventual destruction of the function of nerves that control voluntary movement.
  • Amyotrophic lateral sclerosis 2, juvenile: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 2 is caused by a defect on chromosome 2q33.
  • Amyotrophic lateral sclerosis 3: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 3 is caused by a defect on chromosome 18q21.
  • Amyotrophic lateral sclerosis 4, juvenile: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 4 is caused by a defect on chromosome 9q34.
  • Amyotrophic lateral sclerosis 5: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 5 is caused by a defect on chromosome 15q15.1-q21.1.
  • Amyotrophic lateral sclerosis 6: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 6 is caused by a defect on chromosome 16q12.
  • Amyotrophic lateral sclerosis 7: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 7 is caused by a defect on chromosome 20p13.
  • Amyotrophic lateral sclerosis 8: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 9 is caused by a defect on chromosome 20q13.3 and is a dominantly inherited, late-onset form.
  • Amyotrophic lateral sclerosis type 1:
  • Amyotrophic lateral sclerosis, 11: An inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 11 is differentiated by the origin of the genetic defect involved (6q21).
  • Amyotrophic lateral sclerosis, 9: An inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 9 is differentiated by the origin of the genetic defect involved (14q11).
  • Amyotrophic lateral sclerosis, familial:
  • Amyotrophic lateral sclerosis, familial type 1: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 1 is characterized by adult onset and relatively fast progression of symptoms. It usually occurs in an autosomal dominant pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 2: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 2 is characterized by childhood or adolescent onset of symptoms which progress very slowly over decades. It occurs in an autosomal recessive pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 3: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 3 is characterized late adulthood onset of symptoms which progress slowly over 5 years. It occurs in an autosomal dominant pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 4: A generally fatal progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 4 is characterized by the onset of symptoms before the age of 25 and slow progression over the next few decades. It occurs in an autosomal dominant pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 5: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 6 is characterized adolescent onset of symptoms with progression varying between 1 and 20 years. It occurs in an autosomal recessive pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 6: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 6 is characterized adult onset of symptoms with progression varying between 1 and 20 years. It occurs in an autosomal dominant pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 7: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 7 is characterized adult onset of symptoms with progression varying between less than 5 years to several decades. It occurs in an autosomal dominant pattern of inheritance.
  • Amyotrophic lateral sclerosis, familial type 8: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 8 is characterized by adult onset and relatively slow progression of symptoms. It occurs in an autosomal dominant pattern of inheritance.
  • Amyotrophic lateral sclerosis, type 6: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 6 is caused by a defect on chromosome 16q12.
  • Amyotrophic lateral sclerosis-parkinsonism-dementia complex: A nerve degeneration disorder that involves progressive dementia and parkinsonism which ultimately leads to death.
  • Amyotrophy, neurogenic scapuloperoneal, New England type: An inherited disorder involving muscle wasting and weakness in the shoulder and lower leg. The exact symptoms that occur may vary from patient to patient with males often being more affected than females. An interesting observation of this condition is that symptoms and rate of progression tends to be more severe with each passing generation.
  • Anauxetic dysplasia: A rare disorder characterized by abnormal skeletal and spinal development.
  • Andersen-Tawil syndrome: A rare disorder where a genetic mutation causes periods of muscle weakness, heart rhythm abnormalities and various physical development abnormalities. It is believed to be caused by problems with the way the body utilizes potassium.
  • Aneurysmal bone cysts: A benign tumor-like lump in the bone. Most frequently occurs in the spine and longer bones of the body.
  • Angel shaped phalangoepiphyseal dysplasia: A rare genetic bone development disorder characterized mainly by an unusual angel-shaped ends of some bones (fingers and hips) which leads to early osteoarthritis.
  • Angel-Shaped Phalanges: A medical term used to describe bones in the fingers or toes which have an abnormal angel-shaped appearance. The anomaly may be associated with rare conditions such as brachyphalangy type C and ASPED.
  • Angio-osteohypotrophic syndrome: A rare disorder characterized by malformation of the peripheral (usually veins) blood vessels and skeletal abnormalities. The malformed blood vessels cause localized soft tissue swellings and if veins in bones are affected, the bone may degenerate due to an insufficient blood supply. Usually the hands are affected.
  • Angiopathy, hereditary, with nephropathy, aneurysms and muscle cramps: An inherited disorder characterized by kidney disease, aneurysms, blood vessel disease and muscle cramps which can last from seconds to minutes.
  • Aniridia -- absent patella: A rare genetic condition characterized by an abnormal or missing kneecap as well as the absence of the iris of the eye.
  • Ankle Arthritis: Inflammation of the ankle joint. The inflammation can be the result of such things as degenerative joint disease, gout, infection, trauma and autoimmune conditions.
  • Ankle Osteoarthritis: A form of arthritis where the cartilage which cushions the bones in the ankle joint as they move against each other, becomes progressively degraded and damaged. This causes problems such as pain, stiffness and impaired movement. Pain is not present in all cases however, with some patients imply suffering joint stiffness. Primary osteoarthritis occurs as the person ages but results from repetitive use and/or high mechanical stress on the joint. It is not a direct result of the aging process. Secondary osteoarthritis is the result of such things as injury to the joint, joint infection, obesity, ligament damage, joint overuse, hormonal problems, pregnancy and various other conditions. Family history seem to play a factor in developing the condition.
  • Ankle clonus: A rhythmical contraction of the calf muscles following a of sudden dorsiflexion of the leg being semiflexed.
  • Ankle conditions: Conditions that affect the ankle
  • Ankle defects short stature: A rare disorder characterized mainly by ankle defects and short stature
  • Ankle injuries: Injury to the ankle
  • Ankle sprain: Damage to the ankle ligaments.
  • Ankyloglossia -- heterochromia -- clasped thumbs: An extremely rare inherited condition characterized by clasped thumbs (adducted thumb), different colored eyes and a tongue anomaly where the tongue has limited mobility due to the fact that it is excessively attached to the floor of the mouth.
  • Ankylosing Spondylitis: Inflammation of spinal joints similar to rheumatoid arthritis.
  • Ankylosing spondylarthritis: Inflammation of one or more spine joints. The spine becomes progressively painful and stiff and the spine joints may eventually fuse and cause disability. The condition may vary from mild to severe. Inflammation can affect other joints and tissues.
  • Ankylosis: Fusion of bones in a joint
  • Ankylosis -- facial anomalies -- pulmonary hypoplasia syndrome: A rare familial syndrome characterized mainly by fused or stiff joints, facial anomalies and underdeveloped lungs.
  • Anonychia -- ectrodactyly: A very rare syndrome characterized by the absence of nails and the absence of all or part of one or more fingers or toes (ectrodactyly).
  • Anonychia -- microcephaly: A very rare syndrome characterized by the absence of nails and a small head.
  • Anonychia onychodystrophy brachydactyly type b: A rare, dominantly inherited disorder characterized abnormal or absent nails, permanently flexed fingers and a broad, finger-like thumb.
  • Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly: A rare, dominantly inherited disorder characterized abnormal or absent nails, missing fingers, permanently flexed fingers and a broad, finger-like thumb.
  • Anophthalmia -- cleft palate -- micrognathia: A rare syndrome characterized mainly by absent eyes, cleft palate and a small jaw.
  • Anophthalmia -- hand and foot defects -- mental retardation: A rare syndrome characterized mainly by mental retardation, hand and foot defects and absent eyes.
  • Anophthalmia -- megalocornea -- cardiopathy -- skeletal anomalies: A rare genetic syndrome characterized by absent or very small eyes, large corneas, congenital heart defects and skeletal abnormalities.
  • Anophthalmia -- microcephaly -- hypogonadism: A rare syndrome characterized mainly by absent eyes, a small head and hypogonadism.
  • Anophthalmia -- short stature -- obesity: A very rare syndrome characterized by absent eyes, short stature and obesity.
  • Anophthalmos with limb anomalies: A rare disorder characterized by absent eyes
  • Ansell-Bywaters-Elderking syndrome: A rare familial syndrome characterized mainly by mental retardation, rash, eye inflammation and joint disease.
  • Anterior Interosseous Nerve Compression: Compression or entrapment of the radial nerve which is in the forearm. The problem can result from such things as bone tumors, trauma, lipomas or the repetition of certain arm motion. This nerve is involved in controlling various muscles in the hand and the wrist. The condition may be misdiagnosed as tennis elbow - the pain from tennis elbow is usually closer to the elbow than the pain in radial tunnel syndrome.
  • Anterior Interosseous Nerve Syndrome:
  • Anterior horn disease: Any of a group of diseases that affect the anterior horn cells which make up part of the spinal cord. The anterior horn contains motor neurons which primarily affect the axial muscles. Symptoms will vary depending on the specific disease involved. Examples of such diseases includes Werdnig-Hoffmann disease, amyotrophic lateral sclerosis, spinal muscular atrophy, Charcot-Marie-Tooth disease, progressive muscular atrophy and polyiomyelitis.
  • Antithyroid arthritis syndrome: Arthritis caused by using antithyroid drugs to treat hyperthyroidism.
  • Antley-Bixler Syndrome: A rare genetic disorder characterized by premature closing of skull bones, choanal atresia and craniofacial and limb abnormalities.
  • Aortic dilatation- joint hypermobility- arterial tortuosity: A rare syndrome characterized by the dilation of the aortic root, hyperextensible joints and varicose veins
  • Aphalangia -- syndactyly -- microcephaly: A very rare syndrome characterized by the absence of one or more bones of the fingers and toes, a small head and fusion of fingers.
  • Aphalangy -- hemivertebrae -- urogenital-intestinal dysgenesis: A rare congenital disorder characterized by missing fingers and toes, abnormal vertebrae and various malformations of the organs.
  • Aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits and nails: A rare syndrome characterized by the underdevelopment or absence of the pelvis, thigh bone, shin bone and ulna (forearm bone) as well as digital and nail abnormalities.
  • Arachnodactyly -- Intellectual Deficit -- Dysmorphism: A rare condition characterized by long thin digits, reduced intelligence characteristic facial appearance.
  • Arachnodactyly -- mental retardation -- dysmorphism: A very rare syndrome characterized by mental retardation, unusual facial features and long, thin fingers and toes.
  • Arima syndrome: A rare disorder characterized mainly by eye and brain abnormalities.
  • Armendares syndrome: A rare syndrome characterized mainly by retarded growth and facial, skull and eye abnormalities.
  • Arnold Stickler Bourne syndrome: A very rare syndrome characterized by muscle problems in hands, mouth and pharynx, kidney anomalies and corneal crystals.
  • Arnold-Chiari Malformation (Type 1): A rare malformation where the base of the brain enters into the upper spinal canal.
  • Arnold-Chiari Syndrome: Malformation of the brain which leads to herniation of the cerebellar tonsils and the medulla into the foramen magnum.
  • Arnold-Chiari malformation type 2: A rare malformation where the base of the brain enters into the upper spinal canal. The extent of the deformity is greater in type 2 than type 1 and hence the symptoms are more severe and are often associated with a myelomeningocele (opening of the spine and spinal cord).
  • Arnold-Chiari malformation type 3: An extremely rare malformation where the base of the brain enters into the upper spinal canal. Type 3 involves the herniation of brain or brain stem tissue out of the back of the neck or head. The condition generally has a poor prognosis.
  • Arnold-Chiari malformation type 4: Arnold-Chiari malformation is a rare malformation where the base of the brain enters into the upper spinal canal. Type 4 actually involves a lack of development of a portion of the base of the brain (cerebellum). The prognosis is very poor with death often occurring during infancy.
  • Arterial occlusive disease, progressive -- hypertension -- heart defects -- bone fragility -- brachysyndactyly: A rare syndrome characterized by narrowing or blockage of a number of arteries (in the kidneys, abdomen, brain and heart) as well as fragile bones, heart defects and finger abnormalities. Fractures and high blood pressure often start during the first years of life.
  • Arterial tortuosity syndrome: A rare disorder which affects the connective tissue that makes up blood vessels resulting in various arterial abnormalities. Connective tissue abnormalities also affect the skin and joints.
  • Arthralgia -- purpura -- weakness syndrome: A rare autoimmune disorder characterized mainly by weakness, joint pain, reddish or purplish skin discolorations and a blood abnormality where cryoglobulins in the blood precipitate at low temperatures.
  • Arthralgia similar to that in rheumatoid arthritis: Pain in the joints similar to that of rheumatoid arthritis.
  • Arthritis: General name for any type of joint inflammation, but often means age-related osteoarthritis.
  • Arthritis -- short stature -- deafness: A very rare syndrome characterized by arthritis, short stature, deafness and numerous other abnormalities.
  • Arthritis pain: Arthritis is inflammation of one or more joints, which results in pain, swelling, stiffness, and limited movement.
  • Arthritis, Gouty: Joint pain and inflammation (arthritis) caused by gout (buildup of urate crystals). The big toe is most commonly affected but other joints may also be affected e.g. foot, ankle, elbow, wrist, knee and fingers. Usually only one joint is affected at a time. The condition is most often seen in older men.
  • Arthritis-related enthesitis: Inflammation of the entheses due to arthritis. The enthuses is the site at which the tendon or ligament attaches to the bone.
  • Arthrogryposis: A rare congenital disorder characterized by reduced mobility of joints due to the build up of fibrous tissue in the joint.
  • Arthrogryposis -- epileptic seizures -- migrational brain disorder: A rare disorder characterized by congenital joint contractures, epileptic seizures and brain development abnormalities. It can be caused by fetal exposure to alcohol or chemical products.
  • Arthrogryposis -- hyperkeratosis, lethal form:
  • Arthrogryposis -- ophthalmoplegia -- retinopathy: A very rare syndrome characterized by congenital contractures of the hands and feet as well as eye problems.
  • Arthrogryposis -- renal dysfunction -- cholestasis syndrome: A very rare syndrome characterized by joint contractures, kidney dysfunction and liver problems.
  • Arthrogryposis -- spinal muscular atrophy: A group of inherited motor neuron diseases involving progressive muscle weakness and wasting due to degeneration of motor neurons in the spinal cord. Joint contractures are also present at birth.
  • Arthrogryposis Distal: A form of arthrygryposis (congenital contractures) which tends to affect mainly the distal parts of limbs (hands and feet). The degree of limb involvement is variable.
  • Arthrogryposis IUGR thoracic dystrophy: A very rare syndrome characterized by congenital joint contractures, intrauterine growth retardation (IUGR) and ribcage abnormalities.
  • Arthrogryposis due to muscular dystrophy: A rare disorder where a non-progressive muscle disease results in the presence of multiple joint contractures at birth.
  • Arthrogryposis multiplex congenita -- pulmonary hypoplasia: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.
  • Arthrogryposis multiplex congenita neurogenic type: A rare non-progressive syndrome characterized by congenital contractures that originates from a nerve problem (spinal motor neuron depletion).
  • Arthrogryposis multiplex congenita type 2B: A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities.
  • Arthrogryposis multiplex congenita, distal type 1: A form of arthrygryposis (congenital contractures) which tends to affect mainly the distal parts of limbs (hands and feet). The degree of limb involvement is variable.
  • Arthrogryposis multiplex congenita, distal, X-linked: A rare condition characterized by the presence of contractures at birth as well as various other anomalies. The condition is X-linked.
  • Arthrogryposis multiplex with deafness, inguinal hernias, and early death: A rare syndrome characterized multiple joint contractures throughout the body, deafness, inguinal hernias and death usually within months of birth.
  • Arthrogryposis, distal, type 2A: A form of distal arthrogryposis (joint contractures in ends of limbs) that involves additional symptoms such as facial and spinal anomalies.
  • Arthrogryposis, distal, type 2B: A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities.
  • Arthrogryposis-like disorder: A rare disorder characterized by joint contractures of the knees and ankles resulting in wasting or overgrowth of nearby muscles.
  • Arthrogryposis-like hand anomaly -- sensorineural deafness: A rare disorder characterized by hand contractures and deafness.
  • Arthrogrypotic hand abnormality and sensorineural hearing loss: Arthrogrypotic hand abnormality and sensorineural hearing loss is a very rare condition reported in a only a few families. It is characterized by finger and thumb abnormalities and hearing loss.
  • Arthropathy, Neurogenic: Joint destruction caused by damage to the nervous system which prevents the patient feeling sensations in the joint. Due to the nerve damage, pain and damage to the joint often goes unnoticed as the joint deteriorates even further. The knee and ankle are the most common joints affected. The condition is usually caused by an underlying diseases which affects the nerves e.g. diabetic neuropathy, syringomyelia, spinal cord injury and pernicious anemia.
  • Arthropathy, progressive pseudorheumatoid, of childhood: A form of progressive rheumatoid arthritis that affects children.
  • Arthrosis: A joint
  • Aseptic osteitis (generic term): A non-infectious inflammation of the bone. Any bone may be affected
  • Ashley syndrome: A rare syndrome characterized mainly by an unusual facial appearance and muscle and skeletal abnormalities.
  • Asphyxiating Thoracic Dystrophy: A rare genetic disorder characterized by short limbs, underdeveloped iliac wings and a narrow rigid thoracic cage that often results in asphyxiation.
  • Asphyxiating Thoracic Dystrophy 2: Asphyxiating thoracic dystrophy is rare syndrome characterized mainly by abnormal development of the ribcage The ribcage is restricted to the point where breathing is impaired and death during infancy is a common occurrence. Type 2 is linked to a defect on chromosome 15q13.
  • Asphyxiating Thoracic Dystrophy 3: Asphyxiating thoracic dystrophy is rare syndrome characterized mainly by abnormal development of the ribcage The ribcage is restricted to the point where breathing is impaired and death during infancy is a common occurrence. Type 3 is linked to a defect on chromosome 11q13.5.
  • Astasis: A term used to describe the inability to stand due to muscle coordination problems as opposed to muscel problems. It tends to occur as a result to damage to a part of the brain (frontal lobes).
  • Asternia: Congenital absence of the sternum (breastbone).
  • Asternia with Cardiac, Diaphragmatic, and Abdominal defects: A rare disorder characterized by the congenital absence of the sternum (bone that joins the two sides of the ribcage) as well as defects involving the heart, diaphragm and the abdomen.
  • Astley-Kendall syndrome: A very rare syndrome involving abnormal skeletal development and resulting in short limbs, fragile bones and cartilage abnormalities. The condition generally results in stillbirth or death during early infancy.
  • Asymmetric short stature syndrome: A rare disorder characterized mainly by short stature, unequal leg lengths and facial anomalies.
  • Ataxia spastic congenital miosis: A rare, dominantly inherited disorder characterized mainly by ataxia, spasticity and small pupils that respond poorly to light.
  • Ataxia with fasciculations: A rare inherited disorder characterized by the association of a movement disorder called ataxia with muscle twitching (fasciculations) in the arms and legs.
  • Ataxia, episodic -- vertigo -- tinnitus -- myokymia: A rare genetic disorder characterized by episodes of incoordination and unsteadiness as well as tinnitus and vertigo. Stress, exhaustion, sudden movements and exertion may trigger the episodes. It is caused by a defect on chromosome 1q42.
  • Ataxia-oculomotor apraxia syndrome: A nerve disorder which affects the motor nerves and results in movement problems which includes the eyes. Gait problems are usually the first symptom and this is followed by speaking difficulty, intention tremor and then eye movement problems.
  • Atelosteogenesis Type III: A very rare inherited skeletal ossification disorder. Unlike types I and II, survival past infancy is possible in type III.
  • Atelosteogenesis, type 1: A rare genetic disorder characterized by bone formation abnormalities, short stature and early death.
  • Atelosteogenesis, type 2: A very rare inherited skeletal disorder involving the bone and cartilage and resulting in various bone abnormalities.
  • Atherosclerosis, premature -- deafness -- diabetes mellitus -- photomyoclonus -- nephropathy -- degenerative neurologic disease: A rare syndrome characterized mainly by deafness, diabetes, epilepsy, kidney disease and premature hardening of the arteries.
  • Athetoid Cerebral Palsy: Cerebral palsy is movement disorder originating from some sort of damage to the brain. There are a few different types of cerebral palsy e.g. spastic, athetoid and ataxic. Athetoid cerebral palsy is characterized by athetoid movements which are slow, writhing involuntary muscle movements.
  • Athetosis: Slow, continuous, involuntary writhing movements. Usually the hands and feet are involved but the face, tongue, neck and other muscle groups may also be involved.
  • Atlanto-Axial Fusion: A congenital anomaly where the first neck vertebrae is fused to the skull.
  • Aural atresia -- multiple congenital anomalies -- mental retardation: A rare syndrome characterized by a number of malformations as well as mental retardation.
  • Auralcephalosyndactyly: A very rare syndrome characterized by ear abnormalities, premature fusion of skull bones and syndactyly (fusion of digits).
  • Auriculoosteodysplasia: A rare disorder characterized mainly by abnormal ears and multiple bone development anomalies.
  • Autonomic Dysreflexia: A complication of spinal cord injury where a particular stimulus can trigger an excessive response from the autonomic nervous system which causes blood pressure to rise - sometimes to dangerous levels. Stimuli that can trigger the response include bladder irritation, bowel irritation (e.g. due to constipation, gas, enema), skin irritation (e.g. due to burns, pressure sores, ingrown toenails), broken bones, tight clothing, labour and temperature extremes. The severity and frequency of the condition is highly variable. The condition occurs in patients with tetraplegia or with loss of sensation above the lower rib cage.
  • Autosomal Dominant Charcot-Marie-Tooth with hearing loss: A dominantly inherited form of Charcot-Marie-Tooth disease which also involves hearing loss. Charcot-Marie-Tooth disease is a progressive nerve disease that affects the peripheral nerves and hence the muscles primarily in the limbs.
  • Autosomal Recessive Tetra-Amelia: A rare disorder characterized by the absence of all four extremities as well as skeletal, nervous system, craniofacial and other abnormalities. The condition is causes death before or soon after birth.
  • Autosomal recessive limb-girdle muscular dystrophy, type 2G:
  • Autosomal recessive spastic paraplegia, type 11:
  • Avascular necrosis: Bone death from lack of circulation.
  • Avascular necrosis of femoral head, familial form: A familial hip joint disorder where bone growth abnormalities caused by an interrupted blood supply to the head of the femoral bone results in it's degeneration and deformity. When the body creates a new blood supply, new healthy bone can be formed.
  • Axial mesodermal dysplasia spectrum: A variable range of defects that occur during fetal development. The defect occurs at a cellular level and affects the way various parts of the body develop.
  • Axial osteomalacia: A rare bone disorder where an enzyme defect affects bone formation that primarily affects the ribs and iliac crest (hip bone).
  • Axial osteosclerosis: A rare bone abnormality involving patches of increased bone density which tend to occur in the spine, pelvis and the ball part of the hip joint.
  • Baby rattle pelvic dysplasia: A lethal bone development disorder.
  • Back Impairment: An impairment of the function of the back
  • Back pain: Pain from the back or spine.
  • Bahemuka Brown syndrome: A very rare syndrome characterized by spastic paraplegia and skin pigmentation irregularities.
  • Ballard syndrome: A rare condition characterized by enlarged liver and spleen and fractures that occur in areas of weakened bone.
  • Baller-Gerold Syndrome: A rare syndrome characterized by premature fusion of skull bones and radial defects. Variable other abnormalities may be present.
  • Balo disease: A rare neurological disorder where the protective sheath around brain nerve fibres are progressively destroyed. Symptoms are determined by the size and location of the affected brain area.
  • Baltic myoclonic epilepsy: A rare inherited type of progressive myoclonus epilepsy which tends to cause symptoms during childhood. The involuntary muscle movements tend to occur more frequently and become more severe with increasing age. Symptoms may occur following various stimuli such as light, stress or exercise.
  • Banki syndrome: A rare disorder characterized by abnormal curvature of fingers, thin middle sections of long bones, fusion of certain wrist bones (lunate and cuneiform bones) and other hand abnormalities.
  • Baraitser burn fixen syndrome: A rare syndrome characterized mainly by skeletal abnormalities, a skin disorder and an expressionless face.
  • Bardet-Biedl Syndrome: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities.
  • Bardet-Biedl syndrome, type 1: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 1 is caused by a defect in chromosome 11q13.
  • Bardet-Biedl syndrome, type 10: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 10 is caused by a defect in chromosome 12q.
  • Bardet-Biedl syndrome, type 11: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 11 is caused by a defect in chromosome 9q33.1.
  • Bardet-Biedl syndrome, type 12: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 12 is caused by a defect in chromosome 4q27.
  • Bardet-Biedl syndrome, type 2: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 2 is caused by a defect in chromosome 16q21.
  • Bardet-Biedl syndrome, type 3: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 3 is caused by a defect in chromosome 3p12-q13.
  • Bardet-Biedl syndrome, type 4: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 4 is caused by a defect in chromosome 15q22.3.
  • Bardet-Biedl syndrome, type 5: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 5 is caused by a defect in chromosome 2q31.
  • Bardet-Biedl syndrome, type 6: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 6 is caused by a defect in chromosome 20p12.
  • Bardet-Biedl syndrome, type 7: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 7 is caused by a defect in chromosome 4q27.
  • Bardet-Biedl syndrome, type 8: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 8 is caused by a defect in chromosome 14q32.11.
  • Bardet-Biedl syndrome, type 9: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 9 is caused by a defect in chromosome 7p14.
  • Barnicoat-Baraitser syndrome: A rare syndrome characterized mainly by extra digits and excessive growth resulting in an increased birth weight and size.
  • Barrel chest: Increased anterior-posterior diameter of the chest often seen in emphysema.
  • Barrow-Fitzsimmons Syndrome: A rare (only one reported case) inherited condition characterized by short limbs, an unusual facial appearance and congenital heart disease.
  • Bartenwerfer syndrome: A rare disorder characterized by dwarfism and facial and skeletal abnormalities. The disorder is a variant of Morquio disease.
  • Bartsocas Papa syndrome: A rare condition characterized by webbing of skin as well as various other physical and mental abnormalities.
  • Basal cell nevus anodontia abnormal bone mineralization: A rare syndrome characterized mainly by the association of basal cell nevus, absence of all teeth on one side of the mouth and abnormal bone mineralization.
  • Bassoe syndrome: A very rare syndrome characterized primarily by hypogonadism, cataracts during infancy and muscle weakness.
  • Batten Disease: Rare childhood genetic degenerative nerve system disease.
  • Batten-Turner muscular dystrophy: A benign form of congenital muscular dystrophy involving relatively minor muscle wasting. The condition progresses slowly until adulthood.
  • Battle's sign: Bruising behind the ears indicating a base of skull fracture.
  • Bazopoulou-Kyrkanidou syndrome: A very rare syndrome characterized primarily by skull, facial and skeletal and gum abnormalities.
  • Beals syndrome: A rare genetic connective tissue disorder characterized by joint contractures, arachnodactyly and a crumpled appearing ear.
  • Beardwell syndrome: A very rare syndrome characterized primarily by abnormal calcium deposits along the vertebrae as well as the development of calluses on the palms and soles.
  • Beare-Stevenson cutis gyrata syndrome: A rare genetic disorder involving skin and skull abnormalities due to the premature fusion of skull bones.
  • Beare-Stevenson cutis gyrate syndrome:
  • Becker Muscular Dystrophy: A muscular dystrophy charaterised by enlargement of muscles
  • Becker disease: A rare inherited neuromuscular disorder characterized by muscle stiffness when movement is initiated and difficulty relaxing muscles after movement had occurred. Becker disease is a recessively inherited form of myotonia congenita and usually occurs later in childhood than the dominantly inherited form and muscle stiffness is usually more severe.
  • Becker's muscular dystrophy (BMD): A slowly progressing muscle wasting disease that affects mainly the hip and shoulder muscles.
  • Beckwith-Wiedemann Syndrome: A rare genetic disorder characterized by macroglossia, omphalocele, macrosomia and ear creases.
  • Beemer-Langer syndrome: A very rare inherited condition characterized by a number of congenital abnormalities and death generally occurs during early infancy.
  • Behr syndrome: A rare inherited neurological condition characterized by spastic paraplegia and sometimes optic atrophy.
  • Bellini-Chiumello-Rinoldi syndrome: A very rare syndrome characterized primarily by mental retardation, short stature and unusual shaped ends of long bones.
  • Bencze syndrome: A rare inherited condition characterized mainly by abnormal, asymmetrical facial bone growth and eye problems in some cases.
  • Benign Fasciculation Syndrome: Common movement disorder manifesting in a fine (fast) tremor; it is an inherited condition of unknown cause.
  • Benign Multiple Sclerosis: Describes a type of relapsing-remitting multiple sclerosis in which few relapses occur. These relapses tend to produce sensory symptoms, which go away and leave very little or no residual damage or disability
  • Benign congenital hypotonia: A rare condition where an infant has a severe lack of muscle tone which progressively improves and usually disappears within 10 years.
  • Benign essential tremor syndrome: A condition characterized mainly by tremor affecting usually then hands and head and the tremors may then slowly progress to other parts of the body.
  • Benign paroxysmal torticollis of infancy: A harmless condition characterized by recurring periods of head tilting resulting from dystonia (sustained muscle contractions) of the neck muscles. Other symptoms such as vomiting and irritability may also occur variably. Episodes tend to occur without any noticeable triggers and may last from hours to days. Episodes can occur as often as every two weeks or as infrequently as every couple of months.
  • Benjamin syndrome: A rare disorder characterized mainly by anemia, bone abnormalities and mental and growth retardation.
  • Bennett fracture: A fracture that occurs at the base of the thumb. The fracture occurs in such a way as to dislocate the thumb joint.
  • Beradinelli-Seip congenital lipodystrophy:
  • Berardinelli-Seip congenital lipodystrophy: A rare genetic disorder characterized by diabetes mellitus, loss of body fat, hepatomegaly, enlarged genitals, increased skeletal growth and other abnormalities.
  • Berardinelli-Seip congenital lipodystrophy, type 1: A rare genetic disorder characterized by early-onset diabetes mellitus, loss of body fat, serious insulin resistance, high blood triglycerides and fatty liver. Type 1 is distinguished from type 2 by the origin of the genetic defect. Type 1 is caused by a defect on the AGPAT2 gene on chromosome 9q34.3. Type 1 seems to be less severe with some cases of type 2 resulting in premature death which can occur as early as the first year of life. Type 2 also involves mental retardation which is not seen in type 1.
  • Berardinelli-Seip congenital lipodystrophy, type 2: A rare genetic disorder characterized by early-onset diabetes mellitus, loss of body fat, serious insulin resistance, high blood triglycerides and fatty liver. Type 2 is distinguished from type 2 by the origin of the genetic defect. Type 2 is caused by a defect on the BSCL2 gene on chromosome 11q13. Type 2 seems to be more severe with some cases resulting in premature death which can occur as early as the first year of life. Type 2 also involves mental retardation which is not seen in type 1.
  • Berk-Tabatznik syndrome: A rare condition characterized by eye and skeletal problems.
  • Berndorfer syndrome: A rare syndrome characterized mainly by a cleft palate, harelip and cleft hands and feet.
  • Bessel-Hagen disease: A dominantly inherited disorder characterized by growth of multiple tumors made up of cartilage on the bones.
  • Bethlem myopathy: A rare, slow-progressing, genetic muscle disorder where the muscle gradually weaken and become wasted.
  • Beveridge syndrome: A rare syndrome characterized by a large head, skeletal and visceral problems and patches of reduced skin pigmentation.
  • Bicep muscle strain: Damage to the bicep muscle in the arm due to over-stretching of the muscle tissue. The damage involves tearing the muscle tissue. Small blood vessels may also be damaged which can cause bruising. The symptoms may vary from mild to severe depending on the severity of the damage.
  • Bicipital syndrome: Dislocation of the bicipital tendon (the long head of the biceps tendon) due to some form of trauma.
  • Bicipital tendinosis: Inflammation of the bicipital tendon (the long head of the biceps tendon). Occurs mainly in athletes who engage in sports that involve throwing, swimming or golfing.
  • Bicipital tendonitis: Inflammation of the bicipital tendon (the long head of the biceps tendon). It is often associated with some sort of trauma or overuse. It is usually associated with rotator cuff disease.
  • Bielschowsky disease: An eye disorder where one eye tends to drift upwards while the other remains fixed.
  • Biemond Syndrome: A rare genetic disorder characterized by nystagmus, cerebellar ataxia and short digits.
  • Biemond syndrome type 1: A rare inherited condition characterized by mental retardation, finger and toe abnormalities, obesity and eye problems.
  • Biemond syndrome type 2: A rare inherited condition characterized by mental retardation, obesity, polydactyly and underdeveloped genitals.
  • Biemond syndrome type 3: A rare inherited condition characterized by the inability to feel pain as well as other anomalies.
  • Billet-Bear syndrome: A very rare syndrome characterized mainly by the complete or partial absence of the kidneys as well as partial duplication of the lower leg.
  • Bird-headed dwarfism with progressive ataxia, Insulin-resistant diabetes, goiter and primary gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
  • Blepharophimosis -- ptosis -- syndactyly -- mental retardation: A rare genetic disorder characterized by eye anomalies, webbed fingers and mental retardation.
  • Blepharophimosis with ptosis, syndactyly, and short stature: A very rare genetic condition characterized by the association of droopy eyelids, webbed digits and short stature.
  • Blepharophimosis, ptosis, epicanthus inversus: A rare genetic disorder characterized by inner canthal folds, lateral displacement of inner canthi and drooping upper eyelid.
  • Blepharoptosis -- cleft palate -- ectrodactyly -- dental anomalies: A rare genetic disorder characterized primarily by dental symptoms, opening in the roof of the mouth (cleft palate) and missing fingers giving the hands a claw like appearance.
  • Blethen-Wenick-Hawkins syndrome: A rare syndrome characterized mainly by short stature, skeletal abnormalities and reduced pituitary gland functioning.
  • Blomstrand syndrome: A rare lethal congenital condition characterized by abnormal bone development.
  • Blount disease: A bone developmental disorder that affects the shin bone (tibia) resulting in a progressive bow-legged appearance due to the inward facing angle of the shin bone. One or both legs may be affected.
  • Bone dysplasia -- corpus callosum agenesis: A very rare syndrome characterized mainly by abnormal brain development and bone growth abnormalities.
  • Bone dysplasia Moore type: A rare disorder characterized by abnormally bowed long bones. The bowed bones may be symmetrical or asymmetrical. The condition has only been observed in two siblings and is believed to be a previously undescribed disorder.
  • Bone dysplasia, lethal, Holmgren type: A rare lethal bone malformation syndrome.
  • Bone fragility, craniosynostosis, proptosis, hydrocephalus: A very rare genetic disorder characterized by fragile bones, premature closure of skull bones, protruding eyeballs and fluid buildup in the skull.
  • Bone infarct: A relatively uncommon condition where some bone tissue dies due to a lack of sufficient blood supply to the affected tissue for any reason. An interruption in the blood supply can result from such things as emboli, thrombi, infection, diabetes, kidney transplant, hemophilia, increased steroid levels, immunosuppressant use and bone trauma. Often there are no symptoms unless significant areas of bone are involved and usually there are no symptoms in the early stages. Radiological tests will not necessarily reveal a bone infarct.
  • Bone pain: Bone pain or tenderness is aching or other discomfort in one or more bones.
  • Bone pain, periodic: Periods of bone pain which occurred in the shafts of long bones. The condition was observed in many members of a number of generations in one family.
  • Boomerang dysplasia: A rare lethal disorder characterized by bone abnormalities (lack of bone ossification and missing bones) and a characteristic face.
  • Borjeson-Forssman-Lehmann Syndrome: A rare genetic disorder characterized by severe mental deficiency, large ears, hypogonadism and other abnormalities.
  • Borrone-Di Rocco-Crovato syndrome: A rare progressive syndrome characterized by skin, heart and skeletal defects. Only several reported cases of the condition.
  • Boucher-Neuhauser syndrome: A very rare disorder characterized by spinocerebellar ataxia, eye abnormalities and a failure of the pituitary to stimulate gonadal development during puberty.
  • Boutonniere deformity: A finger deformity where the finger permanently bends down at the middle joint and the end joint bends backwards. It can occur as the result of an injury to the tendon or an inflammatory condition such as rheumatoid arthritis.
  • Bowed legs: Also known as genu varum. It is a deformity marked by medial angulation of the leg in relation to the thigh, an outward bowing of the legs, giving the appearance of a bow
  • Bowel-associated dermatosis-arthritis syndrome: An illness that sometimes occurs in people with gastrointestinal diseases. It is believed to be caused by a build up of bacteria in a pouch in the bowel which triggers the immune system into action.
  • Bowing of Long Bones, Asymmetrical and Symmetrical: A very rare syndrome characterized by bowed long bones, unusual skull appearance and wide-set eyes.
  • Bowing of legs, anterior, with dwarfism: A very rare syndrome characterized primarily by dwarfism and bowed lower leg bones. Only one or two reported cases of the condition.
  • Bowing of long bones congenital: A rare congenital disorder where the long bones in the arms and legs are abnormally bowed or shortened. The most common bones involved are the thigh, shin and forearm (ulna) bones. The deformity is often associated with other abnormalities.
  • Bowing, congenital, short bones: A rare syndrome characterized mainly by broad, bowed bones affecting mainly the thigh bone and upper arm bones.
  • Bowler's finger syndrome: A condition that occurs in bowlers and involves a lump at the base of the thumb and sore, stiff joints in some of the fingers.
  • Boylan-Dew-Greco syndrome: A very rare syndrome characterized primarily by insufficient myelination of peripheral nerves and contractures at birth. The myelin sheath is a protective coating around nerves.
  • Brachial Plexus Injury: Damage to the nerves controlling the shoulder and arm (often from childbirth).
  • Brachio-Skeletal-Genital Syndrome: A very rare syndrome described in three siblings of related parents. The offspring had skull, skeletal and genital abnormalities.
  • Brachioskeletogenital syndrome: A rare syndrome characterized by
  • Brachmann-De Lange Syndrome: A rare congenital disorder characterized by very small stature, synophrys, thin downturning upper lip and micromelia.
  • Brachycephalofrontonasal dysplasia: A very rare syndrome characterized primarily by widely spaced eyes and other head and face abnormalities.
  • Brachycephaly -- deafness -- cataract -- mental retardation: A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation.
  • Brachycephaly -- deafness -- cataract -- microstomia -- mental retardation: A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation.
  • Brachydactylous dwarfism, Mseleni type: A very rare syndrome characterized primarily by progressive joint disease, short stature and short fingers and toes. The joint disease affects mainly the hips, knees, ankles and spine. The condition can eventually lead to disability and hip and/or knee replacements in serious cases.
  • Brachydactyly -- absence of distal phalanges: A rare hand malformation involving short digits and the absence of the end bones in the digits.
  • Brachydactyly -- anonychia: A rare syndrome characterized by short toes and nail abnormalities.
  • Brachydactyly -- arterial hypertension: A rare syndrome characterized by the association of hypertension with short digits. Premature death (by the fifth decade) due to stroke occurs in untreated patients.
  • Brachydactyly -- dwarfism -- mental retardation: A very rare syndrome characterized by short fingers, very short stature and mental retardation.
  • Brachydactyly -- elbow, wrist dysplasia: A very rare syndrome characterized by elbow and wrist abnormalities and short end bones of fingers.
  • Brachydactyly -- mesomelia -- mental retardation -- heart defects: A rare genetic disorder characterized by mental retardation, heart defects, short digits and short limbs.
  • Brachydactyly -- scoliosis -- carpal fusion: A rare genetic disorder characterized by short fingers and toes, scoliosis (curved spine) and fused hand bones.
  • Brachydactyly -- tibial hypoplasia: A rare syndrome characterized by short digits and an underdeveloped or absent shin bone.
  • Brachydactyly nystagmus cerebellar ataxia: A very rare syndrome characterized mainly by short digits, nystagmus and cerebellar ataxia.
  • Brachydactyly preaxial with hallux varus and thumb abduction: A rare digital anomaly characterized by short thumbs and big toes which are also abducted (angled away from the foot or hand).
  • Brachydactyly type A1: A rare inherited malformation characterized primarily by shortness or absence of middle bones of fingers and toes.
  • Brachydactyly type A2: A very rare digital anomaly characterized by shortened middle bones of the second finger (index finger) and second toe. These fingers and toes are also often angled abnormally.
  • Brachydactyly type A3: A hand malformation characterized by a short middle bone of the fifth finger and this finger usually bends towards the fourth finger.
  • Brachydactyly type A6: A rare limb malformation disorder characterized by underdeveloped or absent middle bones in fingers and toes as well as shortened limbs and short stature.
  • Brachydactyly type B: A form of finger deformity characterized by absent or underdeveloped end and middle bones of fingers and toes as well as absent or underdeveloped nails.
  • Brachydactyly type C: A rare malformation characterized primarily by variable deformities involving the two sections closest to the hand of the second and third fingers.
  • Brachydactyly type D: A digital defect where the ends of the thumbs and toes are abnormally short and broad.
  • Brachydactyly type E: A rare condition characterized by short metacarpals and metatarsals - hand bones that lead to the fingers.
  • Brachydactyly types B and E combined: A rare hand anomaly characterized by shortening of one or more metacarpals (hand bones) as well as an underdeveloped end bone in the little finger
  • Brachydactyly with hypertension: A very rare disease characterized by the association of hypertension with brachydactyly (abnormally short fingers and/or toes).
  • Brachydactyly, absent pectoral muscles and agenesis/hypoplasia of kidneys: A rare syndrome characterized by short digits, absent chest muscles and absent or underdeveloped kidneys.
  • Brachydactyly, long thumb type: A rare digital anomaly characterized by short fingers and a long thumb.
  • Brachydactyly, mesomelia, mental retardation, aortic dilation, mitral valve prolapse and characteristic face: A rare syndrome characterized by short digits, short limbs, mental retardation, aortic dilation, mitral valve prolapse and a characteristic face.
  • Brachydactyly, type A5, nail dysplasia: A rare digital anomaly where the middle bones of the second to fifth fingers are missing and the nails are abnormal.
  • Brachydactyly, type B2: A rare dominantly inherited hand and foot malformation involving varying degrees of absence or underdevelopment of the ends of the fingers and toes as well as fusion of bones in the wrist and ankle.
  • Brachydactyly, type a7: A hand abnormality where involving short second digits and dislocated thumbs.
  • Brachymesomelia-renal syndrome: A rare syndrome characterized by kidney abnormalities and forearm and lower leg deformity. The condition describes a single reported case.
  • Brachymesophalangy 2 and 5: A rare genetic disorder characterized by short middle bones of the second and fifth fingers and toes.
  • Brachymetacarpalia: A medical term used to describe the shortening of one or more metacarpals which are bones that run through the palm of the hand.
  • Brachymetacarpalism: A medical term used to describe the shortening of one or more metacarpals which are bones that run through the palm of the hand.
  • Brachymetatarsalia: A medical term used to describe the shortening of one or more metatarsals which are bones that run through the foot to the toes.
  • Brachymetatarsalism: A medical term used to describe the shortening of one or more metatarsals which are bones that run through the foot to the toes.
  • Brachymetatarsus IV: A rare birth defect where the fourth toe (next to the smallest toe) is abnormally short. The shortness of the toe is actually due to a short foot bone that leads to the fourth toe.
  • Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia: A rare syndrome characterized mainly by short digits, extra digits and a small or absent shin bone.
  • Brachyrachia: A rare inherited spine condition characterized by dwarfism due to a short spine.
  • Braddock Jones Superneau syndrome: A very rare disorder characterized primarily by the premature fusion of skull bones (sagittal), the Dandy-Walker malformation and a buildup of fluid in the brain (hydrocephalus). The Dandy-Walker malformation is where a cyst develops in the back of the brain and interferes with the movement of fluid through the brain resulting in an accumulation of fluid.
  • Bradykinesia: A medical term used to describe slow execution of movements and the ability to adjust the body's position is reduced.
  • Brailsford: A rare inherited skeletal disorder characterized by short hand and foot bones which may also be deformed. Other anomalies are also present.
  • Brain malformation -- congenital heart disease -- postaxial polydactyly: A very rare syndrome characterized mainly by a brain defect, congenital heart disease and extra fingers.
  • Branchio-skeleto-genital syndrome: A rare inherited disorder characterized by mental retardation, jaw anomalies, cleft palate, sunken chest and other abnormalities.
  • Breakdance back syndrome: Difficulty bending over and lower back pain caused by breakdancing.
  • Brittle bone syndrome lethal type: A rare form of brittle bone disease caused by abnormal collagen production which results in weak bones which break easily. The condition can result in death, especially during the process of birth which can result in multiple severe fractures.
  • Broberger-Zetterstrom syndrome: A type of chronic bone abscess where a infected bone forms a pus-filled cavity. The abscess may cause no symptoms for many years.
  • Brodie knee: Chronic inflammation of the knee joint.
  • Broken Collarbone: Fractured collarbone (clavicle)
  • Broken finger: Fracture of a finger bone
  • Broken foot: Fracture of one or more foot bones
  • Broken hand: Fracture of one or more bones in the hand
  • Broken jaw: Fracture of the jaw bone (mandible)
  • Broken leg: Fracture of a bone in the upper or lower leg
  • Broken neck: Fracture of the bone or bones in the cervical spine.
  • Broken nose: Fracture of the nose
  • Broken shoulder blade: Fracture of the shoulder blade bone (scapula)
  • Broken toe: Fracture of a bone in a toe
  • Brown-Sequard Syndrome: A disorder where spinal cord compression and lesions involve only half of the spinal cord.
  • Bruck syndrome: A very rare syndrome characterized primarily by weak, brittle bones and abnormal knee, ankle and foot joints (congenital contractures) at birth. There are two different subtypes of the disorder, each with a different genetic defect origin.
  • Bruck syndrome 1: A very rare syndrome characterized primarily by weak, brittle bones and abnormal knee, ankle and foot joints (congenital contractures) at birth.
  • Bruck syndrome, 2: A very rare syndrome characterized primarily by limited joint extension (congenital contractures), weak fragile bones and webbed skin at elbows and knees.
  • Brudzinski's sign: Involuntary flexion of the leg when flexing the neck.
  • Brugsch's syndrome: A rare syndrome characterized by small hands and feet as well as thickened skin on the hands, feet, scalp and face.
  • Bruns-Garland syndrome: Spinal cord damage that occurs in some diabetics and results in weakness and wasting in the arms and legs.
  • Brunzell syndrome: A rare recessively inherited syndrome characterized by a lack of skin fat (Seip syndrome), cystic angiomatosis of the long bones which can lead to fractures.
  • Brushfield-Wyatt syndrome: A rare syndrome characterized mainly by mental deficiency, weakness on one side of the body and large port-wine stains that cover about a third of the skin's total surface. This condition may be a variant of another condition called Sturge-Weber syndrome.
  • Bruyn-Scheltens syndrome: A rare syndrome characterized by limb weakness and muscle wasting in the hands and feet.
  • Bunionette: Enlargment of the lateral aspect of the fifth metatarsal head.
  • Bunions: Bony growth on the big toe.
  • Buntinx-Lormans-Martin syndrome: A very rare syndrome characterized mainly by eye anomalies and fusion of the forearm bones.
  • Bursitis: Inflammation of one or more bursae (small sacs) of synovial fluid in the body.
  • Buttiens-Fryns syndrome: A rare genetic disorder characterized by a small jaw, small mouth and defects involving the hands and feet.
  • C-like syndrome: A rare disorder involving poor fetal growth, limb and facial defects and severe developmental delay.
  • CAMFAK syndrome: A rare syndrome characterized by cataracts, small head, failure to thrive and spinal curvature.
  • CFS subtype 1 (cognitive, musculoskeletal, sleep, anxiety/depression): Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of specific tests for the condition. There is no known cause but it appears to be associated with a previous infection in some cases. CFS subtype 1 tends to be more severe with the dominant symptoms being anxiety, depression and cognitive, musculoskeletal and sleeping problems.
  • CFS subtype 2 ( musculoskeletal, pain, anxiety/depression): Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of specific tests for the condition. There is no known cause but it appears to be associated with a previous infection in some cases. CFS subtype 2 tends to be more severe with the dominant symptoms being anxiety, depression, pain and musculoskeletal problems.
  • CFS subtype 3 (mild): Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of specific tests for the condition. There is no known cause but it appears to be associated with a previous infection in some cases. CFS subtype 3 tends to have milder symptoms than other subtypes.
  • CFS subtype 4 (cognitive, musculoskeletal, sleep, anxiety/depression): Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of specific tests for the condition. There is no known cause but it appears to be associated with a previous infection in some cases. CFS subtype 4 tends to be dominated by cognitive symptoms.
  • CFS subtype 5 (musculoskeletal, gastrointestinal): Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of specific tests for the condition. There is no known cause but it appears to be associated with a previous infection in some cases. CFS subtype 5 tends to be dominated by musculoskeletal and gastrointestinal symptoms.
  • CFS subtype 6 (postexertional): Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of specific tests for the condition. There is no known cause but it appears to be associated with a previous infection in some cases. CFS subtype 6 tends to be dominated by excessive fatigue following exertion.
  • CFS subtype 7 (pain, infectious, musculoskeletal, sleep, neurological, gastrointestinal, neurocognitive, anxiety/depression): Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of specific tests for the condition. There is no known cause but it appears to be associated with a previous infection in some cases. CFS subtype 7 tends to be more severe with the dominant symptoms being pain, infections, anxiety, depression and musculoskeletal, sleep, neurological, gastrointestinal and neurocognitive problems.
  • CHILD syndrome ichthyosis: A rare genetic disorder characterized by unilateral hypomelia, underdeveloped skin and heart defects.
  • COFS syndrome: A genetic disorder involving degeneration of the brain and spinal cord that starts during the fetal stage.
  • CRMO, juvenile: A rare chronic inflammatory bone disease that occurs in children. The symptoms go into periods of remission only to return. The most common sites for the inflammation are the shinbone, thighbone and collarbone with usually several sites being affected at once.
  • Calabro syndrome: A rare syndrome characterized mainly by premature fusion of skull bones, arm and leg abnormalities, small jaw, short neck and genital defects.
  • Calf muscle strain: Damage to the calf muscle due to over-stretching of the muscle tissue. The damage involves tearing the muscle tissue. Small blood vessels may also be damaged which can cause bruising. The symptoms may vary from mild to severe depending on the severity of the damage.
  • Calvarial doughnut lesions -- bone fragility: A rare disorder characterized by a number of doughnut shaped lesions on the skull which makes the skull lumpy. Weak bones resulting in fractures without trauma and dental decay are also features of this disorder.
  • Calvarial hyperostosis: A rare condition characterized by excessive calvarial bone growth.
  • Camera Costa Syndrome: Camera Costa syndrome refers to a reported case characterized by hand and finger malformations, hearing impairment and heart defect.
  • Camera-Marugo-Cohen syndrome: A rare syndrome characterized mainly by mental retardation, muscle weakness, obesity and an asymmetrical body.
  • Campomelia Cumming type: A rare syndrome characterized by limb and multiple abdominal organ abnormalities. The disorder results in death before birth or soon after.
  • Campomelic Syndrome: A rare condition characterized by dwarfism due to bowed shin and thigh bones as well as various craniofacial and other skeletal anomalies.
  • Campomelic dwarfism: A rare genetic disorder characterized by bowed tibia, underdeveloped shoulder blades and a flat face.
  • Campomelic dysplasia: A rare genetic disorder characterized by bowed tibia, underdeveloped shoulder blades and a flat face.
  • Camptobrachydactyly: A rare hand and foot abnormality where the fingers and toes are unusually short and the first part of the fingers or toes are held in a fixed contracted position.
  • Camptocormism: Abnormal forward bending of the trunk that is noticeable when standing or walking but disappears when lying down. It is often associated with conditions such as dystonia and Parkinson's disease.
  • Camptodactyly -- fibrous tissue hyperplasia -- skeletal dysplasia: A rare syndrome characterized by a hand deformity and skeletal abnormalities.
  • Camptodactyly -- joint contractures and facial skeletal dysplasia: A rare genetic disorder characterized by joint contractures, drooping eyelids, spinal curvature and permanently bent fingers (camptodactyly).
  • Camptodactyly -- taurinuria: A rare disorder characterized by high urinary levels of taurine as well as a hand malformation.
  • Camptodactyly -- vertebral fusion: A rare disorder characterized mainly by the association of a permanently flexed finger (usually the little finger) and fused vertebrae.
  • Camptodactyly syndrome, Guadalajara type 1: A rare syndrome characterized mainly by retarded fetal growth and permanently flexed fingers as well as other abnormalities such as short toes, short neck and a small head.
  • Camptodactyly syndrome, Guadalajara type 2: A rare syndrome characterized mainly by retarded fetal growth and permanently flexed finger (camptodactyly).
  • Camptodactyly syndrome, Guadalajara type 3: A rare syndrome characterized mainly by retarded fetal growth and permanently flexed finger (camptodactyly).
  • Camptodactyly syndrome, Guadalajara type III: A rare syndrome characterized mainly by a variety of defects including facial dysmorphism.
  • Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia: A rare syndrome characterized by a hand deformity and skeletal abnormalities.
  • Camptodactyly, tall stature, and hearing loss syndrome: A rare syndrome characterized mainly by camptodactyly, tall stature and hearing loss. The hearing loss starts at birth or during infancy and progresses during childhood resulting in mild to severe hearing impairment.
  • Camptomelic dysplasia I: A rare condition characterized by dwarfism due to bowed shin and thigh bones.
  • Camptomelic dysplasia II: A rare condition characterized by dwarfism due to bowed shin and thigh bones which tend to be shorter and wider than normal.
  • Camptomelic syndrome: A rare inherited skeletal disorder characterized by short stature, missing ribs and other abnormalities.
  • Camurat-Engelmann disease, type 2: A rare syndrome characterized by a range of abnormalities including waddling gait, muscle weakness, knee and hip contractures, delayed puberty and leg pain.
  • Camurati Engelmann disease, type 2: A rare disorder (described in two patients) which has similar symptoms to the genetic condition called Camurati Engelmann disease but the genetic defect responsible for type 1 is not present in type 2. Type 2 has additional bone abnormalities which were noted on radiographs. Patients tend to suffer flare-ups of their condition which is accompanied by severe pain which may leave the patient incapacitated. Flare-ups can be triggered or made worse by stress, exhaustion, exercise, growth spurts, standing too long, walking too long, infection, illness, injury, surgery, cold weather and sudden changes in air pressure.
  • Camurati-Engelmann Disease: A rare genetic connective tissue disorder characterized by diaphyseal dysplasia, muscle weakness and leg pain.
  • Cantu Sanchez-Corona Garcia-cruz syndrome: A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and various other abnormalities.
  • Cantu syndrome: A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and various other abnormalities.
  • Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/Generalized Overgrowth.: A rare syndrome characterized by asymmetrical face and limbs, lymphatic malformations of the face and neck, capillary malformation of the lower lip and overgrowth of parts or all of the body.
  • Cardiac malformation, cleft lip-palate, microcephaly and digital anomalies: A newly described syndrome characterized by heart malformations, cleft lip/palate, small head and digital anomalies.
  • Cardiocranial syndrome: A rare syndrome characterized mainly by heart and skull abnormalities.
  • Cardiomelic syndrome Stratton Koehler type: A rare syndrome characterized mainly by heart and skeletal abnormalities.
  • Cardiomyopathy -- hypotonia -- lactic acidosis: A rare syndrome characterized by heart muscle disease, reduced muscle tone and lactic acidosis from birth.
  • Cardiomyopathy with myopathy due to COX deficency: A rare condition where an enzyme (cytochrome c oxidase) deficiency results in muscle disease which also affects the heart.
  • Cardiomyopathy with myopathy due to COX deficiency: A respiratory chain disorder resulting in muscle and heart symptoms.
  • Carnevale-Hernandez-Castillo syndrome: An extremely rare disorder characterized by missing digits or parts of digits and a thumb that has three bones like a finger instead of the normal two.
  • Carnitine Deficiency Syndromes: Syndromes associated with the deficiency of carnitine.
  • Carnitine Palmitoyl Transferase I Deficiency: A very rare inherited deficiency of a particular enzyme (Carnitine palmitoyl transferase 1) prevents fatty acids being transported to the part of the cell that converts it to energy.
  • Carnitine Palmitoyl Transferase II Deficiency: A very rare inherited deficiency of a particular enzyme (Carnitine palmitoyl transferase 1) prevents fatty acids being transported to the part of the cell that converts it to energy. There are two main subtypes of the disorder with each involving a slightly different form of the enzyme. Type I can be readily managed through diet. Type II has three subtypes: the myopathic form affects mainly the muscles; the hepatocardiomuscular form affects the liver and heart muscle; and the lethal neonatal form affects muscles and organs and usually results in death during the first year of life.
  • Carnitine palmitoyl transferase 1 deficiency: A very rare inherited deficiency of a particular enzyme (Carnitine palmitoyl transferase I) prevents fatty acids being transported to the part of the cell that converts it to energy.

 

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