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Мезоаксіальна синостотична синдактилія з редукцією фаланг пальців

ORPHA:157801· ICD-10 Q70.0· Mesoaxial synostotic syndactyly with phalangeal reduction

Визначення(English summary)

A rare non-syndromic syndactyly characterized by mesoaxial reduction of fingers, complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, malformed thumbs, and hypoplasia and clinodactyly of the 5th finger. Preaxial webbing of toes with terminal phalangeal hypoplasia of all toes has been reported in association.

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