Glossary for Limb conditions

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.
Ablepharon macrostomia syndrome: A rare disorder involving a number of mainly physical abnormalities.
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.
Abuelo Forman Rubin Syndrome: A rare condition where a blood disorder called alpha-thalassemia is associated with hand and foot defects and genital abnormalities.
Acanthokeratodermia: An uncommon skin condition involving excessive growth of the horny part of the skin on the palms of the hands and soles of the feet. Patients also suffer thickening of the nails.
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 deep peroneal nerve: An extra nerve in the leg that some people have. The accessory peroneal nerve branches off from the peroneal nerve and provides additional innervations for the foot muscles. The anomaly poses no problems and is asymptomatic but may be noticed if nerve conduction tests are done on the leg nerves.
Acheiropodia: A rare birth defect where infants are born without hands or feet.
Achenbach syndrome: A rare condition where a blood blister the size of a coin develops spontaneously on the palm of the hand. Sharp pain and redness accompany the blood blister. In some cases the blood blister can develop after strain or temperature change.
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.
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.
Acral lentiginous melanoma: Acral lentigous melanoma is the most common variant of skin cancer seen in dark-skinned people. This form of melanoma appears on the palms of the hands, the soles of the feet, or on nails. Lesions are usually brown, black, or multicolored with irregular borders, and flat or nodular.
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.
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.
Acrocyanosis: An uncommon disorder of blood vessels, causing cold, pale skin.
Acrodysostosis: A rare genetic disorder characterized by short hands, small nose, mental deficiency and hand and foot deformities.
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.
Acrokeratoelastoidosis of Costa: A rare condition characterized by yellowish or flesh-colored papules or plaques which have a flat top.
Acromelanosis: A birth anomaly where there is patches of increased pigmentation in the ends of the fingers and toes. The pigmentation may spread to surrounding areas of skin.
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, 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.
Acroparesthesia syndrome: A condition involving episodes of paresthesia (tingling, numbness and stiffness) mainly in the lower arms and hands. It most often occurs in middle-aged women.
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.
Acropustulosis: Acropustulosis is a recurrent, self-limited, pruritic, vesiculopustular eruption of the palms and soles
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
Acute idiopathic polyneuritis: A rare progressive form of ascending polyneuropathy believed to be an autoimmune response.
Adactylia unilateral: A rare hand malformation where the ends of the 2nd and 5th digits is missing. The nails on the affected fingers are tiny remnants.
Adactylia unilateral dominant: A rare genetic condition characterized by missing portions of fingers usually with some sort of malformed remnant of a nail on the end of what is remaining of the finger.
Adams-Oliver Syndrome: A very rare inherited disorder characterized by scalp, skull and limb abnormalities. The range and severity of the symptoms can vary greatly from mild to severe.
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.
Adult SMA: Form of Spinal Muscular Atrophy in adults.
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.
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.
Ainhum: A rare condition where a tough band of tissue tightens around a body part and causes it to fall off (autoamputation). Mostly seen in barefooted Africans where the fifth toe autoamputates.
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 Hirschsprung syndrome: A rare disorder characterized by Hirschsprung disease (an intestinal disorder), nail abnormalities and facial anomalies.
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.
Albright like syndrome: A rare disorder characterized by mental retardation, short stature and finger and toe abnormalities.
Allain Babin Demarquez syndrome: A rare syndrome characterized by premature fusion of skullbones, abnormal development of skeletal bones and hypertension.
Alopecia congenita keratosis palmoplantaris: An extremely rare condition characterized by thickening of skin on the palms and soles and lack of hair.
Alopecia universalis -- onychodystrophy -- vitiligo: A rare syndrome characterized by the association of total hair loss, vitiligo and abnormal nails.
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.
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.
Amelo-onycho-hypohidrotic syndrome: A rare disorder characterized primarily by tooth and nail abnormalities and reduced sweating ability.
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.
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.
Anetoderma, perifollicular: The development of discolored spots on the inside thighs of older women. The condition generally causes no problems. It is believed to be the result of minor destruction of elastic tissue around hair follicles. Causes include endocrine anomalies, certain drugs or bacterial infections that produce enzymes that destroy elastic tissue.
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.
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.
Anonychia: An inherited condition where an infant is born without fingernails and toe nails. The finger bones were normal.
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: A rare birth malformation characterized by absent nails and dystrophic nails.
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 with flexural pigmentation: A rare disorder characterized by missing nails and areas of increased and decreased pigmentation in the groin and armpits.
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 -- hand and foot defects -- mental retardation: A rare syndrome characterized mainly by mental retardation, hand and foot defects and absent eyes.
Anophthalmos with limb anomalies: A rare disorder characterized by absent eyes
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:
Antley-Bixler Syndrome: A rare genetic disorder characterized by premature closing of skull bones, choanal atresia and craniofacial and limb abnormalities.
Apelt-Gerkin-Lenz Syndrome: A rare inherited syndrome characterized by clefting of the lip and palate as well as the absence of variable portions of all of the limbs.
Apert syndrome: 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.
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.
Aplasia cutis congenita of limbs recessive: A very rare syndrome characterized by a localized absence of skin on the limbs. The extent of the malformation is variable and but it often heals with scarring.
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.
Arm injury: An injury to the arm
Armpit Boil: A boil that occurs in the armpit. A boil is an infected hair follicle located on the skin. The lesions if full of pus and can be quite painful.
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.
Arthrogryposis: A rare congenital disorder characterized by reduced mobility of joints due to the build up of fibrous tissue in the joint.
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 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, 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.
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.
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.
Athlete's foot: Fungal skin condition typically of feet or toes.
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).
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:
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.
Axillary lymphadenopathy: In localized axillary lymphadenopathy, the enlargement is restricted to lymph nodes in the axillary areas (both arm pits). The examination of the axillae must not be missed especially in case of carcinoma breast.
BOD syndrome: A very rare syndrome characterized primarily by small nails, digital abnormalities (mainly of the fifth finger and toe) and various facial anomalies.
Baby rattle pelvic dysplasia: A lethal bone development disorder.
Baerensprung disease: Circular itchy patches that occur on the thighs as a result of fungal infection.
Bagatelle-Cassidy syndrome: An extremely rare syndrome characterized by a large head, widely spaced eyes, hearing loss, short limbs and developmental delay.
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.
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.
Barnicoat-Baraitser syndrome: A rare syndrome characterized mainly by extra digits and excessive growth resulting in an increased birth weight and size.
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.
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.
Becker Muscular Dystrophy: A muscular dystrophy charaterised by enlargement of muscles
Becker's muscular dystrophy (BMD): A slowly progressing muscle wasting disease that affects mainly the hip and shoulder muscles.
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.
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.
Bennion-Patterson Syndrome: A condition characterized by thickening of the skin on the palms of the hands and soles of the feet as well as an increased risk of developing gastrointestinal cancer which increases with age.
Berger paresthesia: A rare disorder characterized by paresthesia and weakness in the lower legs.
Berndorfer syndrome: A rare syndrome characterized mainly by a cleft palate, harelip and cleft hands and feet.
Bethlem myopathy: A rare, slow-progressing, genetic muscle disorder where the muscle gradually weaken and become wasted.
Bhaskar-Jagannathan syndrome: A very rare syndrome characterized primarily by long, thin fingers, amino acids in the urine, cataracts (during infancy), incoordination and delayed development.
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.
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.
Blepharophimosis -- ptosis -- syndactyly -- mental retardation: A rare genetic disorder characterized by eye anomalies, webbed fingers and mental retardation.
Blepharophimosis ptosis esotropia syndactyly short: A rare disorder characterized by eye anomalies, webbed fingers and short stature.
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.
Blepharophimosis, ptosis, polythelia and brachydactyly: A rare syndrome characterized mainly by droopy eyelids, short digits, blepharophimosis and accessory nipples (polythelia).
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.
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.
Bluefarb-Stewart syndrome: A rare disorder where blood vessel defects in a limb causes skin lesions. It most often occurs in one leg. The blood vessel defects involves abnormal connections between arteries and veins.
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.
Boomerang dysplasia: A rare lethal disorder characterized by bone abnormalities (lack of bone ossification and missing bones) and a characteristic face.
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
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.
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.
Brachial Neuritis: Condition where there is a sudden onset of shoulder weakness and pain, thought to be due to a viral infection of the nerve roots in the cervical spine
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.
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 -- 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, 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.
Brachytelephalangy, characteristic facies, Kallmann: A very rare syndrome characterized primarily by very short end bones of fingers and facial anomalies.
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.
Braun-Bayer syndrome: A familial disorder involving deafness, split uvula, short thumbs and toes and kidney problems.
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 leg: Fracture of a bone in the upper or lower leg
Broken toe: Fracture of a bone in a toe
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.
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.
Bruyn-Scheltens syndrome: A rare syndrome characterized by limb weakness and muscle wasting in the hands and feet.
Buerger's disease: Buergers's disease is a recurring inflammation and thrombosis (clotting) of small and medium arteries and veins of 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.
Burning feet syndrome: Abnormal burning and stinging sensations in the feet which may be accompanied by redness and swelling. It may be caused by factors such as kidney failure, liver damage, thyroid problems, blood disorders, nerve damage, fungal infections, chronic alcoholism and ill-fitting shoes. In some cases, the eyes may also be affected
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.
CHILD syndrome ichthyosis: A rare genetic disorder characterized by unilateral hypomelia, underdeveloped skin and heart defects.
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.
Callosities, hereditary painful: A rare skin inherited condition characterized by the development of painful calluses over pressure points in the hands and feet. Occasionally blisters filled with a foul-smelling liquid form around the calluses.
Camera Costa Syndrome: Camera Costa syndrome refers to a reported case characterized by hand and finger malformations, hearing impairment and heart defect.
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.
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.
Camptodactyly-ichthyosis syndrome: A rare syndrome characterized mainly by permanently bent fingers giving them a windmill-vane appearance as well as dry, scaly skin.
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.
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.
Cardiomelic syndrome Stratton Koehler type: A rare syndrome characterized mainly by heart and skeletal abnormalities.
Carnevale-Canun-Mendoza syndrome: A rare disorder characterized by loss of bone tissue in the wrists and ankles as well as kidney problems.
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 palmitoyl transferase II deficiency, myopathic: A very rare metabolic disorder where deficiency of a particular enzyme (CPT II) prevents muscle fats being converted to energy. Prolonged exercise can cause an episode of muscle symptoms. The myopathic form of the condition is the least severe and tends to affect only the muscles.
Carpal Fusion: A medical term for the abnormal fusion of two or more carpal bones to make a single bone. The carpal bones are the bones that make up the wrist bones.
Carpal Synostosis: A medical term for the abnormal fusion of two or more carpal bones to make a single bone. The carpal bones are the bones that make up the wrist bones.
Carpal Tunnel Syndrome: Hand or wrist problems; often from repetitive motion.
Carpal deformity -- micrognathia -- microstomia: A very rare syndrome characterized by wrist bone defects, a small jaw and a small mouth.
Carpal spasm: Also known as carpopedal spam. It is the spasm of the hands or feet.
Carpal tunnel syndrome pain: Carpal tunnel syndrome (CTS), or median neuropathy at the wrist, is a medical condition in which the median nerve is compressed at the wrist, leading to paresthesias, numbness and muscle weakness in the hand.
Carpenter syndrome: A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
Carpopedal spasm: Spasm of hand or foot seen in tetany.
Carpotarsal osteochondromatosis: A rare disorder characterized by a painless swelling in the ankles and wrists which restricts their range of motion. The swelling is caused by abnormal growths on the wrist and ankle bones. The number of joints involved is variable.
Cartilaginous -- arthritic -- ophthalmic -- deafness syndrome: A rare syndrome characterized by the association of eye, joint and cartilage disease as well as deafness.
Cataract, alopecia, sclerodactyly: A rare disorder characterized by cataracts, lack of hair and skin changes in the hands and feet.
Cayler syndrome: A very rare disorder involving heart defects and abnormalities involving the lower lip muscle.
Centronuclear myopathy, congenital: A severe inherited form of muscle wasting disease which often results in infant death.
Cephalopolysyndactyly: A rare genetic disorder characterized by premature closing of skull bones and craniofacial abnormalities, finger and toe abnormalities. The type and severity of symptoms is variable with many cases remaining undiagnosed because their condition is relatively mild and doesn't cause many problems.
Cerebral Palsy, Spastic Quadriplegic, 1: Spastic quadriplegic cerebral palsy is a motor disorder (affects the muscles and movement) resulting from an injury to the brain. The main symptoms are spasticity, paralysis, poor muscle control and other neurological problems. Type 1 refers to a developmental brain abnormality linked to the GAD1 gene on chromosome 2q31.
Cerebral Palsy, Spastic Quadriplegic, 2: Spastic quadriplegic cerebral palsy is a motor disorder (affects the muscles and movement) resulting from an injury to the brain. The main symptoms are spasticity, paralysis, poor muscle control and other neurological problems. Type 2 refers to a developmental brain abnormality linked to the ANKRD15 gene on chromosome 9p24.3.
Cerebral Palsy, Spastic Quadriplegic, 3: Spastic quadriplegic cerebral palsy is a motor disorder (affects the muscles and movement) resulting from an injury to the brain. The main symptoms are spasticity, paralysis, poor muscle control and other neurological problems. Type 3 refers to a developmental brain abnormality linked to the AP4M1 gene on chromosome 7q22.1.
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome: A rare disorder characterized by abnormal brain development, neurological problems, scaly skin and thickened skin on the palms and soles.
Cerebrorenodigital syndrome: A rare group of syndromes characterized mainly by brain, kidney, finger and toe abnormalities.
Cerebrorenodigital syndrome with limb malformations and triradiate acetabula: A rare group of syndromes characterized mainly by brain, kidney, finger and toe abnormalities as well as an abnormal hip socket.
Cervenka's syndrome: A rare syndrome characterized by joint and facial abnormalities as well as nearsightedness and degenerative eye problems.
Chapple syndrome: A rare birth disorder characterized by painful menstruation, knees bent back and a uterus that is tilted backwards (retroverted). It is believed to be caused by an abnormal fetal position inside the womb.
Char syndrome: A very rare genetic disorder characterized mainly by an unusual facial appearance, abnormal little fingers and a heart abnormality.
Charcot disease: Charcot joint occurs in the presence of sensory or autonomic neuropathy and presents as progressive microtrauma resulting in joint destruction and deformity. It characteristically occurs in weight bearing joints such as the foot, ankle and knee.
Charcot-Marie-Tooth Disorder: Degeneration of limb muscles.
Charcot-Marie-Tooth disease (generic term): A group of inherited neurological disorders characterized by problems with the peripheral nerves. Muscle weakness, muscle wasting and sensory problems are the most common symptoms. The severity and age of onset of symptoms varies depending on the specific subtype of the disorder.
Charcot-Marie-Tooth disease -- deafness: Charcot-Marie-Tooth disease is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Charcot-Marie-Tooth disease and deafness involves the usual CMT symptoms as well as deafness.
Charcot-Marie-Tooth disease deafness recessive type: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4D is inherited recessively and is caused by a defected in a gene in chromosome 8 and is a severe form of the disease that also involves deafness.
Charcot-Marie-Tooth disease with ptosis and parkinsonism: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. This particular type of CMT also involves a drooping upper eyelid and parkinsonism.
Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 5 has an autosomal dominant inheritance, progresses slowly and involves movement disorders.
Charcot-Marie-Tooth disease, Type 1A: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1A is inherited as an autosomal dominant pattern and involves the duplication of the PMP22 gene on chromosome 17.
Charcot-Marie-Tooth disease, Type 1B: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1B is inherited as an autosomal dominant pattern and involves a defect in the MPZ gene on chromosome 1. The severity of the condition is variable depending on the age of onset with severe infantile cases resulting in the inability to walk at an early age.
Charcot-Marie-Tooth disease, Type 1C: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1C is inherited as an autosomal dominant pattern and involves a defect in the LITAF/SIMPLE gene on chromosome 16.
Charcot-Marie-Tooth disease, Type 1D: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1D is caused by a defect of the ERG2 gene on chromosome 10 and usually results in a severe form of the disease.
Charcot-Marie-Tooth disease, Type 1E: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1E involves the usual CMT symptoms as well as deafness.
Charcot-Marie-Tooth disease, Type 1F: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1F is caused by a defect of a gene in chromosome 8 and involves the neurofilament light chain protein.
Charcot-Marie-Tooth disease, Type 2A: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function.
Charcot-Marie-Tooth disease, Type 2AI: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2A1 has an autosomal dominant inheritance and involves a defect in the KIF1B gene on chromosome 1p36.
Charcot-Marie-Tooth disease, Type 2AII: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2A2 has an autosomal dominant inheritance and involves a defect in the MFN2 gene on chromosome 1p36.
Charcot-Marie-Tooth disease, Type 2B: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2B has an autosomal dominant inheritance and involves a defect in the gene for the protein RAB 7 located on chromosome 3.
Charcot-Marie-Tooth disease, Type 2B1: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2B1 has an autosomal dominant inheritance and involves a defect in the LMNA gene located on chromosome 1.
Charcot-Marie-Tooth disease, Type 2B2: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2B2 has an autosomal dominant inheritance and involves a defect located on chromosome 19.
Charcot-Marie-Tooth disease, Type 2C: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2C has an autosomal dominant inheritance and involves a defect in chromosome 12 and involves diaphragm and vocal cord weakness as well as hand and foot problems.
Charcot-Marie-Tooth disease, Type 2D: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2D has an autosomal dominant inheritance and involves a defect in the glycyl RNA synthetase gene on chromosome 7p15. The hands tend to be more severely affected than the feet.
Charcot-Marie-Tooth disease, Type 2E: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2C has an autosomal dominant inheritance and involves a defect in the neurofilament light gene on chromosome 8p21.
Charcot-Marie-Tooth disease, Type 2F: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2F has an autosomal dominant inheritance and involves a defect in the HSPB1 gene on chromosome 7.
Charcot-Marie-Tooth disease, Type 2G: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2G has an autosomal dominant inheritance and involves a defect on chromosome 12.
Charcot-Marie-Tooth disease, Type 2H: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2H has an autosomal recessive inheritance and involves a defect in the GDAP1 gene on chromosome 8.
Charcot-Marie-Tooth disease, Type 2I: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function.
Charcot-Marie-Tooth disease, Type 2J: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2J has an autosomal dominant inheritance and involves a defect on chromosome 1q22.
Charcot-Marie-Tooth disease, Type 2K: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2K has an autosomal dominant inheritance and involves a defect on chromosome 8.
Charcot-Marie-Tooth disease, Type 2L: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2L has an autosomal dominant inheritance and involves a defect in the HSPB8 gene on chromosome 12.
Charcot-Marie-Tooth disease, Type 4A: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4A has an autosomal recessive inheritance and involves a defect in the GDAP 1 protein gene on chromosome 8. The recessive forms of CMT tend to be more severe than the dominant form and often involve hand and foot problems as well as additional systemic symptoms.
Charcot-Marie-Tooth disease, Type 4B1: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B1 has an autosomal recessive inheritance and involves a defect in MTMR2 gene on chromosome 11.
Charcot-Marie-Tooth disease, Type 4B2: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B2 has an autosomal recessive inheritance and involves a defect in the CMT4B2 gene on chromosome 11.
Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. This type is characterized by the involvement of glaucoma which starts during childhood.
Charcot-Marie-Tooth disease, Type 4C: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B2 has an autosomal recessive inheritance and involves a defect in the KIAA1985 gene on chromosome 5. It involves motor and sensory problems as well as scoliosis.
Charcot-Marie-Tooth disease, Type 4E: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B2 has an autosomal recessive inheritance and involves a defect in the EGR2 gene on chromosome 10.
Charcot-Marie-Tooth disease, Type 4F: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4F has an autosomal recessive form of inheritance and is a severe form of the disease. It involves a defect in the PRX gene on Chromosome 19q13.
Charcot-Marie-Tooth disease, Type 4G: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4G has an autosomal recessive form of inheritance and is a severe form of the disease. It involves a defect on Chromosome 10.
Charcot-Marie-Tooth disease, Type 4H: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4H has an autosomal recessive form of inheritance and involves a defect on Chromosome 11.
Charcot-Marie-Tooth disease, X-linked: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type X2 is an inherited defect of the X chromosome and affects males to a greater degree than females.
Charcot-Marie-Tooth disease, X-linked recessive, 2: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type X2 is an inherited defect of the X chromosome and affects males to a greater degree than females.
Charcot-Marie-Tooth disease, X-linked recessive, 3: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type X3 is an inherited defect of the X chromosome and affects males to a greater degree than females.
Charcot-Marie-Tooth disease, X-linked recessive, 4: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4X is an inherited defect of the X chromosome and affects males to a greater degree than females and also involves mental retardation and deafness.
Charcot-Marie-Tooth disease, X-linked recessive, 5: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type X5 is an inherited defect of the X chromosome and affects males to a greater degree than females. In addition to normal CMT symptoms it also involves deafness and eye problems.
Charcot-Marie-Tooth disease, X-linked, 1: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type X1 is an inherited defect of the X chromosome (defect in GJB1 gene) and affects males to a greater degree than females. Transient central nervous system symptoms are also sometimes involved.
Charcot-Marie-Tooth disease, demyelinating, autosomal dominant: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function.
Charcot-Marie-Tooth disease, dominant intermediate 1: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. The condition is denoted dominant intermediate because it is inherited dominantly and the nerve conduction speed is at an intermediate level. It involves a defect in chromosome 10.
Charcot-Marie-Tooth disease, dominant intermediate 2: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. The condition is denoted dominant intermediate because it is inherited dominantly and the nerve conduction speed is at an intermediate level. It involves a defect in the dynamin-2 gene on chromosome 19p13.2.
Charcot-Marie-Tooth disease, dominant intermediate 3: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. The condition is denoted dominant intermediate because it is inherited dominantly and the nerve conduction speed is at an intermediate level. It involves a defect in the tyrosyl-tRNA gene on chromosome 1p35.
Charcot-Marie-Tooth disease, type 1: A slow-progressing muscle disease characterized by muscle weakness and wasting that starts in the hands and feet. Very few patients become wheelchair dependent and life span is not affected. The disorder is inherited in an dominant pattern an involves demyelination of the nerves.
Charcot-Marie-Tooth disease, type 2: A rare inherited disorder characterized by abnormalities in the axon of the peripheral nerve cells instead of the myelin sheath coating of the nerves. The condition manifests as muscle weakness and wasting that usually starts in the legs and spreads to the hands and other parts of the body. The severity, age of onset and rate of progression of the condition varies depending on the genetic origin of the defect.
Charcot-Marie-Tooth disease, type 4: A rare group of demyelinating motor and sensory neuropathies consisting of a number of subtypes. The various subtypes are caused by different genetic defects.
Charcot-Marie-Tooth type 1 aplasia cutis congenital: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. This form of the condition is inherited recessively and involves only mild muscle symptoms as well as a scalp defect.
Charcot-Marie-Tooth, demyelinating, autosomal recessive: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4 has an autosomal recessive form of inheritance and is a severe form of the disease.
Charlie M syndrome: A rare birth disorder characterized by facial abnormalities and malformed or missing parts of the ends of the arms and legs.
Chemke-Oliver-Mallek syndrome: A very rare syndrome characterized mainly by eye and finger and toe abnormalities.
Chilblain: Skin inflammation usually in cold weather
Chitayat Meunier Hodgkinson syndrome: A very rare syndrome characterized by face and finger abnormalities
Chitty Hall Baraitser syndrome: A very rare syndrome characterized by short stature (due to abnormal development of ends of thigh bones), deafness, blocked tear ducts and thigh bone abnormalities.
Chitty-Hall-Webb syndrome: A very rare syndrome characterized mainly by fractures, bowed shin bones, abnormal forearm bone (radius) and reduced bone mass.
Choledochal cyst, hand malformation: A rare disorder characterized by the dilation of a portion of the biliary system and hand malformation.
Chondrodysplasia Punctata, Rhizomelic type: A rare genetic disorder characterized by slow growth, mental deficiency, characteristic facial features and skeletal deformities particularly of the limbs, spine and pelvis.
Chondrodysplasia punctata with steroid sulfatase deficiency: A genetic skeletal and skin disorder involving a deficiency of steroid sulfatase. The skin condition is characterized by large brownish scales which can occur almost anywhere on the skin and can be disfiguring. The face, scalp, palms and soles are usually not involved. The skeletal disorder involves abnormal bone calcification near the joints also results in shortened limbs.
Chondrodysplasia punctata, Sheffield type: A rare genetic disorder characterized by bone anomalies, failure to thrive and unusual facial features. The bone anomalies consists of abnormal calcification in various parts of the body such as the feet, toes, ankle, tailbone, vertebrae, top of thigh, upper arm and laryngeal cartilage. The calcification abnormalities tend to resolve after within the first 5 years.
Chondrodysplasia punctata, brachytelephalangic: A rare disorder characterized by abnormal bone development involving stippled (speckled) calcification of growing ends of long bones. The main features of this disorder are retarded growth, facial anomalies and short end bones in fingers.
Chondrodysplasia punctata, humero-metacarpal type: A rare genetic disorder characterized mainly by abnormal bone calcification. The abnormal calcification occurred in various parts of the body such as the feet, shoulders, tailbone, spine and trachea.
Chondrodysplasia punctata, tibia-metacarpal type: A rare inherited disorder involving abnormal skeletal development and characterized mainly by short shin bones and shortness of some metacarpal bones (hand bones).
Chondrodysplasia, Grebe type: A rare genetic disorder characterized by dwarfism and various limb deformities.
Chondrodystrophia calcificans congenita: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
Chondrodystrophia punctata, autosomal dominant: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
Chondrodystrophy: The abnormal development of cartilage which affects bone growth. The long bones of the body tend to be affected the most and results in short limbs.
Chondroectodermal dysplasia: A rare genetic disorder characterized by dwarfism, extra fingers and/or toes and nail and hair abnormalities.
Chondromalacia: Degeneration or irritation of joint cartilage that usually affects the knees. It is believed to be caused most often by overuse of the joint.
Christian-Demyer-Franken syndrome: A rare syndrome characterized mainly by mental retardation and skeletal abnormalities.
Claudication pain: Pain that occurs in the legs when walking or exercising. It is usually the result of circulation problems which affects the flow of blood to the leg muscles. In severe cases, the pain may persist even when the patient is inactive.
Clayton-Smith Donnai syndrome: A very rare syndrome characterized by scaly skin and facial and finger anomalies.
Cleft lip -- palate -- abnormal thumbs -- microcephaly: A very rare syndrome characterized by a small head, thumb abnormalities and a cleft lip and palate.
Cleft lip -- palate -- ectrodactyly: A very rare syndrome characterized by a cleft lip and palate and missing fingers and toes.
Cleft lip palate -- oligodontia -- syndactyly -- pili torti: A very rare syndrome characterized by a cleft lip and palate, webbed fingers, missing teeth and hair abnormality (pili torti).
Cleft lip palate incisor and finger anomalies: A rare syndrome characterized by the association of a cleft lip and/or palate and anomalies involving the fingers and front teeth.
Cleft palate -- cardiac defect -- genital anomalies -- ectrodactyly: A very rare syndrome characterized by variable symptoms including cleft palate, heart defects, genital anomalies and hand and foot malformations.
Cleft palate -- heart disease -- polydactyly -- absent tibia: A rare syndrome characterized by a cleft palate, heart disease, extra digits and an absent shin bone.
Cleft palate cardiac defect ectrodactyly: A very rare syndrome characterized mainly by the association of a cleft palate, heart defect and a hand malformation.
Cleft palate colobomata radial synostosis deafness: A very rare syndrome characterized mainly by a cleft palate, fused forearm bone, deafness and colobomata.
Cleidorhizomelic syndrome: A very rare inherited syndrome mainly involving skeletal abnormalities.
Cloverleaf skull micromelia thoracic dysplasia: A rare disorder characterized by a cloverleaf skull deformity, small limbs and bone abnormalities of the chest and spine. The disorder is lethal.
Clubfoot: Congenital foot birth deformity turning the foot inward
Coffin-Siris Syndrome: A rare genetic disorder characterized by underdeveloped or absent fifth finger and toenails and coarse facial features.
Collins-Pope syndrome: A very rare syndrome characterized by a dislocated hip, increased finger flexibility and facial anomalies.
Coloboma of macula, type B brachydactyly: A rare disorder characterized by congenital macular colobomas and finger and toe abnormalities.
Common peroneal nerve dysfunction: A condition resulting from damage to the peroneal nerve which branches from the sciatic nerve and allows for movement and sensation in the lower legs and feet. Damage to the nerve can be caused by knee injury or trauma, lower leg bone fracture, constriction of the lower leg or even persistent crossing of the legs.
Compartment Syndrome: Excessive bleeding or swelling following surgery or injury can result in increased pressure within a section of the arms, legs or buttocks. The increased pressure affects blood flow and can result in tissue death necessitating amputation, nerve damage or muscle damage. The condition can be chronic or acute which is a medical emergency.
Compulsive finger picking: A form of obsessive compulsive disorder where a person compulsively picks at the skin on their fingers, especially around the nails. Sufferers can feel the pain they inflict on themselves but the feelings of gratification and stress relief prevent them from stopping. The severity and extent of damage to the skin is variable. Stress and anxiety can trigger the compulsive finger picking.
Conditions associated with nail abnormalities: Nail abnormalities are problems with the color, shape, texture, or thickness of the fingernails or toenails.
Congenital Hemidysplasia with Ichthyosiform erythroderma and Limbs Defects: A rare genetic disorder characterized by unilateral hypomelia, underdeveloped skin and heart defects.
Congenital contractures: A muscle condition present from birth where the muscles are abnormally contracted or short. One or more muscles may be involved and the degree of involvement of the individual muscle may vary.
Congenital dislocation of the patella: Dislocation of the kneecap at birth.
Congenital heart disease -- radio ulnar synostosis -- mental retardation: A very rare syndrome characterized mainly by heart disease at birth, fusion of forearm bones and mental retardation.
Congenital heart disease radio ulnar synostos mental retardation: A very rare syndrome characterized mainly by the presence of mental retardation, congenital heart disease and fusion of the forearm bones.
Congenital ichthyosiform erythroderma: A rare inherited skin disease characterized by chronic redness and the development of thick scaly skin on palms and soles.
Congenital ichthyosis, microcephalus, quadriplegia: A rare birth disorder characterized by scaly skin, small head and paralysis of legs and arms.
Congenital microgastria limb reduction defect: A rare syndrome characterized by micrograstia and limb reduction as well as other abnormalities.
Congenital muscular dystrophy syringomyelia: A very rare disorder characterized by muscle weakness and wasting from birth, a severely deformed spine and syringomyelia (cyst in the spinal cord).
Congenital myopathy: A very rare inherited disorder where muscles are overly-responsive to stimuli because of an abnormality in the muscle membranes. It causes prolonged muscle contraction which is muscle stiffness. The two main forms of myotonia congenital are Thomsen and Becker disease which are respectively inherited dominantly and recessively.
Congenital pseudoarthrosis: A very rare birth defect where the middle portion of a bone fails to develop normally so that the two ends of the bone shaft are not joined. This gives the bone the appearance of having a joint. Bones commonly affected include the shin bone, collar bone, forearm bone and upper leg bone - one or more bones may be involved.
Congenital short femur: A birth defect where the thigh bone is abnormally short.
Conradi-Huenermann Syndrome: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
Conradi-Hunermann syndrome: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
Contact dermatitis -like behind-knee rash: Contact dermatitis like plaques on the chest may be seen in a few cases such as
Contractures -- ectodermal dysplasia -- cleft lip palate: A very rare syndrome characterized by impaired joint mobility at birth, skin problems, cleft lip or palate and growth and psychomotor retardation.
Contractures hyperkeratosis lethal: A rare fatal congenital syndrome where numerous abnormalities arise from reduced fetal movement due to excessively tight skin.
Contractures, congenital, torticollis and malignant hyperthermia: A very rare syndrome characterized by contractures, torticollis and a hyperthermic reaction to general anesthetics.
Cornelia de Lange Syndrome: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. The severity of symptoms is variable.
Cornelia de Lange syndrome 1: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 1 is more severe than type 2 though the range and severity of symptoms is variable.
Cornelia de Lange syndrome 2: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 2 is not as severe as type 1 with some of the abnormalities not presenting until later in life or absent altogether. The range and severity of symptoms is variable.
Coronal synostosis, syndactyly and jejunal atresia: A very rare syndrome characterized mainly by webbed toes, blocked small intestine and premature fusion of certain skull bones (coronal).
Corpus callosum agenesis -- polysyndactyly: A rare syndrome characterized by skin and gastrointestinal defects, extra digits and skull and facial anomalies.
Cortada-Kousseff-Matsumoto syndrome: A rare syndrome characterized by various skeletal abnormalities, small head and mental retardation.
Cortes-Lacassie syndrome: A rare syndrome characterized by nail, hair and teeth abnormalities, malformed hands and feet and seizures. The disorder has only been reported in one cause which resulted in death at 31 months
Cortical blindness -- mental retardation -- polydactyly: A very rare syndrome characterized by mental retardation, extra fingers and vision loss.
Cortical hyperostosis-syndactyly: A rare genetic disorder characterized by webbed fingers and thickening and overgrowth of bones.
Cote-Katsantoni syndrome: A rare condition characterized by osteosclerosis, atrial septal defect, malabsorption, neutropenia, ectodermal dysplasia, growth retardation and mental retardation.
Cousin Walbrau Cegarra Syndrome:
Cramp: The painful spasmodic muscular contraction
Cramp-fasciculations syndrome: A rare condition characterized by muscle pain, cramps, twitching, spasms and other abnormal sensations that occur mainly in the limbs.
Crane-Heise syndrome: A very rare fatal disorder characterized by numerous abnormalities.
Cranioacrofacial syndrome: A very rare syndrome characterized mainly by heart, hand, facial and skull anomalies.
Cranioectodermal dysplasia: A rare condition involving various congenital deformities such as short stature, long head, widely spaced eyes and teeth abnormalities.
Craniofacial -- deafness -- hand syndrome: A very rare syndrome characterized by facial anomalies, deafness and hand abnormalities.
Craniofacial conodysplasia: A rare disorder characterized by neurological symptoms and abnormally-shaped bones in the hands and feet. The neurological symptoms are caused by a buildup of fluid inside the skull as well as compression of the spinal cord at the neck-skull junction.
Craniofrontonasal dysplasia: A rare genetic disorder mainly found in females and characterized by premature closing of skull bones and craniofacial and limb abnormalities.
Craniometadiaphyseal dysplasia, wormian bone type: A rare syndrome characterized by various skeletal and skull anomalies.
Craniometaphyseal dysplasia, autosomal recessive type: A rare genetic disorder characterized by head and facial abnormalities as well as mild limb abnormalities. It is a milder form of the disease than the autosomal dominant type.
Craniomicromelic syndrome: A very rare syndrome characterized by skull and facial abnormalities, short arms and legs and retarded fetal growth.
Craniosynostosis -- brachysyndactyly of hands and absence of toes: A rare condition characterized mainly by premature fusion of skull bones, limb defects and a cleft lip or palate.
Craniosynostosis -- fibular aplasia: A very rare disorder characterized primarily by the premature fusion of skull bones as well missing or underdeveloped fibula (lower leg bone behind shin bone).
Craniosynostosis Fontaine type: A very rare disorder characterized primarily by the premature fusion of skull bones, hand, foot and stomach anomalies and a brain malformation (bilateral periventricular nodular heterotopia).
Craniosynostosis contractures cleft: A rare condition characterized by the association of premature fusion of skull bones (craniosynostosis), contractures and oral clefting.
Craniosynostosis radial aplasia syndrome: A rare genetic disorder characterized by premature closing of skull bones, growth deficiency and anal, limb, urogenital and craniofacial abnormalities.
Crisponi syndrome: A very rare syndrome characterized by excessive muscle contractions in response to stimulus, claw hand, distinctive facial features and fever. Most patients die within months of birth due to complications of hyperthermia but some cases are slowly progressive with longer survival possible.
Cronkhite-Canada Syndrome: A familial polyposis of the gastrointestinal tract associated with ectodermal defects such as alopecia and onychodystrophy
Crossed polydactyly: Hand and foot anomalies involving extra digits and webbing. This form is characterized by involvement of the outer part of the hand and the inner part of the feet e.g. extra fingers next to the smallest finger and extra big toes.
Crossed polydactyly type 1: A birth defect where there is an extra big toe combined with and extra finger on the opposite side to the thumb or and extra thumb and an extra toe on the opposite side to the thumb. Webbing of various fingers and toes is also often present.
Crossed polysyndactyly: A rare malformation characterized by an extra finger beside the small finger, duplication of the big toe and webbing of various fingers and toes.
Culler-Jones syndrome: A very rare syndrome characterized mainly by hypopituitarism (low pituitary hormone level) which affects other hormone levels and an extra little finger.
Czeizel-Losonci syndrome: A very rare syndrome characterized by missing fingers, ureter abnormalities, webbed fingers and toes and abnormal spinal development.
Dahlberg syndrome: A rare condition characterized by hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and short end bones in fingers and toes.
Dancing Eye syndrome: Dancing eye syndrome is a rare neurological condition characterized by abnormal eye movements where the eyes seem to move randomly all over the place. Jerky limb movements are also often present. The severity of the condition and response to treatment varies considerably amongst patients.
Dandy-Walker malformation postaxial polydactyly: A very rare syndrome where the Dandy-Walker malformation is associated with extra fingers and toes.
Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy: A very rare syndrome characterized mainly by mental retardation, large head, short fingers, nearsightedness and brain abnormalities (Dandy-Walker type).
Daneman Davy Mancer syndrome: A very rare syndrome characterized mainly by kidney, thyroid and finger and toe abnormalities.
Dauwerse-Peters syndrome: A rare disorder characterized by short stature, unusual facial appearance, very short fingers and short toes as well as other skeletal anomalies.
Davis syndrome: A very rare condition where short-limbed dwarfism is associated with immunodeficiency.
De Lange 1: A rare disorder involving a variety of congenital abnormalities including retarded growth, behavioral problems, characteristic facial features and upper limb abnormalities.
De Quervains' disease: Inflammation of the tendons in the thumb which can be very painful. It can be caused by overuse of the thumb or wrist which can occur in activities such as knitting, skiing and lifting heavy objects. The condition primarily occurs in females aged 30 to 50 years.
Deafness -- enamel hypoplasia -- nail defects: A very rare syndrome characterized mainly by deafness, tooth enamel abnormalities and nail defects.
Deafness -- hypospadias -- metacarpal and metatarsal synostosis: A very rare syndrome characterized mainly by deafness, penis abnormalities and bone anomalies in the foot and hands.
Deafness -- onychodystrophy -- osteodystrophy -- mental retardation: A very rare inherited disorder involving deafness (D), onychodystrophy (O - nail malformation), osteodystrophy (O - bone malformation) and mental retardation (R).
Deafness onychodystrophy dominant form: A rare dominantly inherited disorder characterized by deafness from birth, deformed nails and
Deafness symphalangism: A rare genetic disorder characterized by deafness, distinctive facial features and fusion of various bones in the fingers, toes and upper arms. Joint ankylosis starts in early childhood and is progressive.
Deafness, congenital onychodystrophy, recessive form: A very rare inherited disorder involving deafness (D), onychodystrophy (O - nail malformation), osteodystrophy (O - bone malformation) and mental retardation (R).
Decorticate posture: An abnormal body posture usually the result of damage to particular parts of the brain - midbrain, thalamus, internal brain capsule, cerebral hemispheres. The position involves elbows flexed inwards on the chest, clenched hands and fists and legs which are extended outwards and inwards.
Decorticate posture in children: An abnormal body posture occurring in children and usually the result of damage to particular parts of the brain - midbrain, thalamus, internal brain capsule, cerebral hemispheres. The position involves elbows flexed inwards on the chest, clenched hands and fists and legs which are extended outwards and inwards.
Decreased ankle and knee reflexes: deep tendon reflexes are tonic contraction of the muscles in response to a stretching force, due to stimulation of muscle proprioceptors. Also called myotatic reflex, these may decrease in certain conditions
Decreased mobility: in some conditions the patients cannot move about
Decreased range of motion: this involves decreased movement in all joints due to a number of reasons
Deep vein thrombosis: Blood clot in vein, often in calf muscle vein in the leg.
Dejerine-Klumpke syndrome: A rare condition where a lower spine lesion causes paralysis of the forearm and hand muscles as well as eye problems. The lesion may occur during birth or as a result of infection, tumor or trauma.
Dejerine-Sottas Syndrome: A condition characterized by a progressive hyperplasia of the interstitial connective tissue causing thickening of the peripheral nerve
Dejerine-Sottas disease: An inherited, progressive, hypertrophic nervous system disorder which affects limb function.
Delta-sarcoglycanopathy: A very rare syndrome characterized mainly by progressive wasting and weakness of muscles in the shoulder and pelvis.
Dermatopathia pigmentosa reticularis: A very rare syndrome characterized mainly by increased skin pigmentation, thickened skin on palms and soles and reduced sweating.
Desbuquois syndrome: A rare condition characterized by short-limbed dwarfism, characteristic facial features and skeletal abnormalities.
Desmin related myopathy: A very rare neuromuscular disorder involving the buildup of a certain protein called desmin in various muscles. The severity and rate of progression of the disorder is variable.
Desmin-related myopathy with Mallory body-like inclusions: A group of muscle disorder characterized by the build up of a protein called desmin in the muscle tissue. The severity of the disorder is variable.
Diabetes like foot weakness: Weakness due to lesions in the muscles of the feet.
Diaphanospondylodysostosis: A rare disorder characterized by bone formation anomalies including a lack of bone formation in the spine during the fetal stage as well as kidney problems.
Diaphragmatic agenesis -- radial aplasia -- omphalocele: A rare disorder characterized by the association of absent forearm bone, abnormal diaphragm development and an omphalocele. The diaphragm is responsible for keeping the abdominal organs inside the abdominal cavity. An opening in the diaphragm can allow internal organs to move through the defect and encroach on chest organs or even protrude through the bellybutton as in an omphalocele
Diaphragmatic defect -- limb deficiency -- skull defect: A very rare syndrome characterized mainly by a defect in the diaphragm that allows some of the abdominal organs to move into the chest cavity, poor skull calcification and limb abnormalities involving missing or abnormal bones in the arms or legs.
Diaphragmatic hernia -- upper limb defects: A rare congenital disorder involving a diaphragmatic hernia and arm or hand defects.
Difficulty making fine hand movements: Coordination in performing fine movements is the ability of the vision system to coordinate the information received through the eyes to control, guide, and direct the hands in the accomplishment of a given task, such as handwriting or catching a ball. Some of the chronic conditions which lead to this problem include
Diffuse idiopathic skeletal hyperostosis: A form of degenerative arthritis characterized by calcification on the sides of the spine vertebrae as well as inflammation and calcification of tendons where they attach to bone which often results in bone spurs.

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