craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
Findings
No curated finding names craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Capra-DeMarco syndrome is characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.
Definition from the Mondo Disease Ontology (MONDO:0015751), read 2026-09-29. CC BY 4.0.
Features
41 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.
- BlepharophimosisHPOHP:0000581
- Very frequent (80% to 99% of cases)
- Bowing of the long bonesHPOHP:0006487
- Very frequent (80% to 99% of cases)
- BrachycephalyHPOHP:0000248
- Very frequent (80% to 99% of cases)
- Broad foreheadHPOHP:0000337
- Very frequent (80% to 99% of cases)
- Chiari malformationHPOHP:0002308
- Very frequent (80% to 99% of cases)
- CraniosynostosisHPOHP:0001363
- Very frequent (80% to 99% of cases)
- Cryptorchidism
Show the remaining 29
- Low-set earsHPOHP:0000369
- Very frequent (80% to 99% of cases)
- Malar flatteningHPOHP:0000272
- Very frequent (80% to 99% of cases)
- MicropenisHPOHP:0000054
- Very frequent (80% to 99% of cases)
- MicrotiaHPOHP:0008551
- Very frequent (80% to 99% of cases)
- Moderate intellectual disabilityHPOHP:0002342
- Very frequent (80% to 99% of cases)
- Pectus carinatumHPOHP:0000768
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of
Other names
3 names
Resolves to: craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
- Also called
- Berant syndromeCapra-DeMarco syndromefamilial scaphocephaly-radioulnar synostosis syndrome