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Brachydactyly-syndactyly, Zhao type

Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Infancy
  • Q73.8
MeSH -
MedDRA -


Disease definition

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.


This syndrome has been described in two families.


It is caused by HOXD13 mutations in 2q31-q32

Genetic counseling

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

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Detailed information

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