holoprosencephaly-caudal dysgenesis syndrome
Findings
No curated finding names holoprosencephaly-caudal dysgenesis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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).
Definition from the Mondo Disease Ontology (MONDO:0016299), read 2026-09-29. CC BY 4.0.
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Abnormal cerebral vascular morphologyHPOHP:0100659
- Frequent (30% to 79% of cases)
- Abnormal diencephalon morphologyHPOHP:0010662
- Frequent (30% to 79% of cases)
- Abnormal morphology of the radiusHPOHP:0002818
- Frequent (30% to 79% of cases)
- Abnormality of the genital systemHPOHP:0000078
- Frequent (30% to 79% of cases)
- Abnormality of the skeletal systemHPOHP:0000924
- Frequent (30% to 79% of cases)
Show the remaining 4
- Premature birthHPOHP:0001622
- Frequent (30% to 79% of cases)
- ProptosisHPOHP:0000520
- Frequent (30% to 79% of cases)
- Radial ray deficiencyHPOHP:0006433
- Frequent (30% to 79% of cases)
- Renal insufficiencyHPOHP:0000083
- Frequent (30% to 79% of cases)
Where it sits
- A kind of