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.Last update: October 2010
This syndrome has been described in two families.
It is caused by HOXD13 mutations in 2q31-q32
Brachydactyly-syndactyly, Zhao type is inherited as an autosomal dominant trait.