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Брахідактилія-синдактилія, тип Чжао

ORPHA:93409· ICD-10 Q73.8· Brachydactyly-syndactyly, Zhao type

Визначення(English summary)

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.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal dominant
Вік початку
Infancy, Neonatal