Ritscher–Schinzel syndrome

Also known as: Cranio-cerebello-cardiac syndrome

Cerebellar malformation, craniofacial anomalies and congenital heart disease.

Medical specialty: Cardiology
Subspecialty: Cardiology / Genetic cardiology
Sex & age distribution: Male: affected; Female: affected; Children: yes
Gene(s) involved: CCDC22, VPS35L, WASHC5

Etiology & mechanism

WASHC5 or CCDC22 variants.

Gene(s) involved (3)

CCDC22VPS35LWASHC5

Symptoms & signs (5)

cerebellar hypoplasiacongenital heart diseasecraniofacial dysmorphismdevelopmental delayhypotonia

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.