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ORPHA:7Malformation syndrome
Also called Craniocerebellocardiac dysplasia · Ritscher-Schinzel syndrome
What it is
Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Infancy, Neonatal
- Inheritance
- Autosomal recessive, X-linked recessive
- 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%
9Common30–79%
25- Abnormal mitral valve morphology
- Abnormal tricuspid valve morphology
- Aortic valve stenosis
- Aplasia/Hypoplasia of the cerebellum
- Atrial septal defect
- Atrioventricular canal defect
- Cleft palate
- Death in infancy
- Depressed nasal bridge
- Downslanted palpebral fissures
- High, narrow palate
- Hydrocephalus
- Hypoplastic left heart
- Kyphosis
- Low-set ears
- Macrocephaly
- Prominent occiput
- Pulmonic stenosis
- Recurrent respiratory infections
- Scoliosis
- Short nose
- Short stature
- Tetralogy of Fallot
- Ventricular septal defect
- Ventriculomegaly
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.
Genes
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.
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