Brachydactyly type A1

December 31, 2014

Overview

Brachydactyly type A1 or Farabee-type brachydactyly. BDA1 is an autosomal dominant inherited disease.

Symptoms

deformity of finger(s), permanent deflection of finger(s), short fingers and or toes

Causes

A1 brachydactyly can be caused by mutation in the Indian hedgehog gene (IHH; 600726) located on chromosome 2q. Another locus for this phenotype, designated BDA1B (607004), has been identified on chromosome 5.

Diagnosis

Down's Syndrome, nail patella syndrome, Holt-Oram Syndrome, Prader-Willi Syndrome (more)