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