Ritscher-Schinzel syndrome

MONDO:0019078Mondo

Findings

No curated finding names Ritscher-Schinzel syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

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.

Definition from the Mondo Disease Ontology (MONDO:0019078), read 2026-09-29. CC BY 4.0.

Onset and course: Death in infancy

Features

63 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.

Abnormal cranial suture/fontanelle morphologyHPOHP:0000235
- Very frequent (80% to 99% of cases)
Abnormal speech patternHPOHP:0002167
- Very frequent (80% to 99% of cases)
Dandy-Walker malformationHPOHP:0001305
- Very frequent (80% to 99% of cases)
Frontal bossingHPOHP:0002007
- Very frequent (80% to 99% of cases)
Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)

Show the remaining 51

Aplasia/Hypoplasia of the cerebellumHPOHP:0007360
- Frequent (30% to 79% of cases)
Atrial septal defectHPOHP:0001631
- Frequent (30% to 79% of cases)
Atrioventricular canal defectHPOHP:0006695
- Frequent (30% to 79% of cases)
Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
Depressed nasal bridgeHPOHP:0005280
- Frequent (30% to 79% of cases)
Downslanted palpebral fissuresHPOHP:0000494
- Frequent (30% to 79% of cases)

Genes

3 genes

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

CCDC22HGNC:28909
- Supportive · Orphanet · Autosomal recessive · 2021
WASHC5HGNC:28984
- Supportive · Orphanet · Autosomal recessive · 2021
VPS35LHGNC:24641
- Limited · Franklin by Genoox · Autosomal recessive · 2020

Where it sits

A kind of: central nervous system malformation
congenital nervous system disorder
hereditary neurological disease
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Narrower terms (4): Ritscher-Schinzel syndrome 1
Ritscher-Schinzel syndrome 2
Ritscher-Schinzel syndrome 3
Ritscher-Schinzel syndrome 4

Other names

3 names

Resolves to: Ritscher-Schinzel syndrome

Also called: 3C syndromeCCC dysplasiaCraniocerebellocardiac dysplasia