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Brachymetatarsia is a rare malformation that causes one or more toes to be abnormally short. The condition is characterized by a metatarsal arch shortness of more than 5 mm. The condition is more common in females, and the incidence reported in the literature ranges from 0.02% to 0.05%. Brachymetatarsia appears to be the result of epiphyseal ...
The symptoms (split foot and ulnar hypoplasia) of the syndrome can be observed from birth. [1] During diagnosis, a doctor may try to rule out other possible diseases or refer the patient to a specialist. [1] Genetic counseling can be done for individuals with the syndrome who are planning on having children. [2]
Saethre–Chotzen syndrome (SCS), also known as acrocephalosyndactyly type III, is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the skull). This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face.
Specialty. Medical genetics. Clinodactyly is a medical term describing the curvature of a digit (a finger or toe) in the plane of the palm, most commonly the fifth finger (the "little finger") towards the adjacent fourth finger (the "ring finger"). [citation needed] It is a fairly common isolated anomaly which often goes unnoticed, but also ...
Chromosome 17. Charcot–Marie–Tooth disease is caused by genetic mutations that cause defects in neuronal proteins. Nerve signals are conducted by an axon with a myelin sheath wrapped around it. Most mutations in CMT affect the myelin sheath, but some affect the axon.
Camptodactyly is a medical condition that causes one or more digits (fingers or toes) to be permanently bent. It involves fixed flexion deformity of the proximal interphalangeal joints. Camptodactyly can be caused by a genetic disorder. In that case, it is an autosomal dominant trait that is known for its incomplete genetic expressivity. This ...
Brachydactyly type D, also known as short thumb, [ 3 ][ 1 ]stub thumb, [ 5 ][ 6 ] or clubbed thumb, [ 5 ][ 6 ] is a genetic trait clinically recognised by a thumb being relatively short and round with an accompanying wider nail bed. The distal phalanx of affected thumbs is approximately two-thirds the length of full-length thumbs.
Morton's toe is the condition of having a first metatarsal bone that is shorter than the second metatarsal (see diagram). It is a type of brachymetatarsia. [1] This condition is the result of a premature closing of the first metatarsal's growth plate, resulting in a short big toe, giving the second toe the appearance of being long compared to the first toe.