Holoprosencephaly-caudal dysgenesis syndrome
ORPHA:2165· ICD-10 Q04.2
Definition
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).
- Prevalence
- 1-9 / 1 000 000
- Age of onset
- Antenatal, Neonatal