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Синдром голопрозенцефалічного каудального дисгенезу

ORPHA:2165· ICD-10 Q04.2· Holoprosencephaly-caudal dysgenesis syndrome

Визначення(English summary)

Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).

Поширеність
1-9 / 1 000 000
Вік початку
Antenatal, Neonatal