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Brachydactyly-syndactyly, Zhao type

ORPHA:93409· ICD-10 Q73.8

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.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal dominant
Age of onset
Infancy, Neonatal