Cardiology · Cardiology / Genetic cardiology
Ritscher–Schinzel syndrome
also: Cranio-cerebello-cardiac syndrome
Cerebellar malformation, craniofacial anomalies and congenital heart disease.
- Specialty
- Cardiology
- Subspecialty
- Cardiology / Genetic cardiology
- Sex & age distribution
- Male: affected; Female: affected; Children: yes
- Gene(s) involved
- CCDC22, VPS35L, WASHC5
- Alternative names & eponyms
- Cranio-cerebello-cardiac syndrome
Etiology & mechanism
WASHC5 or CCDC22 variants.
Gene(s) involved (3)
Symptoms & signs (5)
In plain terms, someone with Ritscher–Schinzel syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
2 shared
Brain–lung–thyroid syndrome
developmental delay, hypotonia
2 shared
Hoyeraal–Hreidarsson syndrome
cerebellar hypoplasia, developmental delay
2 shared
Joubert syndrome
developmental delay, hypotonia
2 shared
Kabuki syndrome
developmental delay, hypotonia
2 shared
Phelan–McDermid syndrome
developmental delay, hypotonia
2 shared
Sotos syndrome
developmental delay, hypotonia
1 shared
Aicardi syndrome
developmental delay
1 shared
Allan–Herndon–Dudley syndrome
hypotonia
1 shared
Bannayan–Riley–Ruvalcaba syndrome
developmental delay
1 shared
Benign hereditary chorea
hypotonia
Shares genes with
None.
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