Brachydactyly-Syndactyly, Zhao Type

Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.

Epidemiology

This syndrome has been described in two families.

Etiology

It is caused by HOXD13 mutations in 2q31-q32

Genetic counseling

Brachydactyly-syndactyly, Zhao type is inherited as an autosomal dominant trait.