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Cиндром дефекту шкіри голови - постаксіальної полідактилії

ORPHA:1003· ICD-10 Q87.2· Scalp defects-postaxial polydactyly syndrome

Визначення(English summary)

A rare syndrome with limb malformations as a major feature characterized by congenital scalp defects and postaxial polydactyly type A. There is a wide variability of expression, with some patients showing only one of the typical manifestations. There have been no further descriptions in the literature since 1985.

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