Tibial aplasia ectrodactyly
Overview
A rare genetic disorder characterized by split hands and/or feet and absence of long bones of the arms or legs
Symptoms
* Hand abnormalities * Split hand * Absence of multiple fingers * Foot abnormalities * Absence of toes
Causes
* Acro-pectoro-renal field defect * Acrorenal syndrome * Acrorenal syndrome recessive * Al Awadi syndrome * Berndorfer syndrome * Ectodermal dysplasia - ectrodactyly - macular dystrophy * EEC syndrome without cleft lip/palate * Holoprosencephaly - ectrodactyly - cleft lip/palate * Hydrops ectrodactyly syndactyly * McGillivray syndrome * Radio digito - facial dysplasia * Trisomy 6 mosaicism
Diagnosis
1. Are there signs of a neurologic disease? Many foot deformities are associated with neurologic disease. For example, a pes cavus may be associated with a peroneal muscular atrophy, poliomyelitis, and Friedreich's ataxia. Muscular dystrophy produces an equinovarus deformity. Friedreich's ataxia may produce a talipes equinovarus. Amyotrophic lateral sclerosis and progressive muscular atrophy may also cause foot deformities.