Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with EleplanCraniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
ORPHA:171839Malformation syndrome
Also called Berant syndrome · Capra-DeMarco syndrome · Familial scaphocephaly-radioulnar synostosis syndrome
What it is
A rare syndromic craniosynostosis 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.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Neonatal
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
28- Blepharophimosis
- Bowing of the long bones
- Brachycephaly
- Broad forehead
- Chiari malformation
- Craniosynostosis
- Cryptorchidism
- Depressed nasal bridge
- High forehead
- Hydrocephalus
- Hypertelorism
- Intellectual disability, moderate
- Long philtrum
- Low-set ears
- Malar flattening
- Micropenis
- Microtia
- Pectus carinatum
- Radioulnar synostosis
- Renal agenesis
- Renal hypoplasia
- Seizure
- Short columella
- Short nose
- Short palm
- Thin vermilion border
- Turricephaly
- Wide intermamillary distance
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
Powered by Eleplan
A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.
Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.