Human Embryology and Teratology

Teaching text  16: Development of the limbs  15: Malformations and anomalies

Malformations and anomalies

Dysmelia means a disturbance in normal limb development. Anomalies of this type take different forms. In amelia, the limbs are completely missing. Hemimelia (peromelia) is the absence of the distal half of a limb, though often only one side of the distal half is affected (radial hemimelia, fibular hemimelia, tibial hemimelia). In phocomelia, or "seal limbs", long tubular bones are either completely absent or underdeveloped. The hands or feet seem to be attached directly to the trunk. This condition is characteristic for thalidomide embryopathy.
Anomalies may also concern hands and feet. In cleft hands or cleft feet, the third ray is often completely missing. Syndactyly is a condition where fingers or toes remain firmly attached to each other. Additional fingers or toes make a polydactyly. Clubfoot is a deformity of the talus. The foot is plantar-flexed and the forefoot is supinated.
A hypoplasia or a retarded formation of both the acetabulum or the head of the femur characterizes the congenital dislocation of the hip.

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