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Синдром Файнгольда, тип 1

ORPHA:391641· ICD-10 Q87.8· Feingold syndrome type 1

Визначення(English summary)

A rare, genetic congenital malformation syndrome characterized by digital anomalies (shortening of the 2nd and 5th middle phalanx of the hand, clinodactyly of the 5th finger, syndactyly of toes 2-3 and/or 4-5, thumb hypoplasia), microcephaly, facial dysmorphism (short palpebral fissures and micrognathia), gastrointestinal atresia (primarily esophageal and/or duodenal), and mild-to-moderate learning disability.

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