Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome, also known as Braddock-Jones-Superneau syndrome, is an autosomal dominant condition linked to mutations on chromosome 8. It combines premature fusion of the sagittal skull suture with Dandy-Walker malformation of the cerebellum, hydrocephalus, and facial differences such as wide-set eyes, a small jaw, and ear deformities, and was first documented in four cases reported in 1993.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 1 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) First Described Sources
1. Wikipedia: ICD-10
WikipediaList of chapters, Chapter XVIIQuote, List of chapters, Chapter XVII
Congenital malformations, deformations and chromosomal abnormalities
2. Wikipedia: Non-communicable disease
WikipediaLead section, transmission-route statement (inferred from disease-category)
Genetic disorders are caused by errors in genetic information that produce diseases in the affected people.
Inherited/genetic diseases section
Genetic disorders are caused by errors in genetic information that produce diseases in the affected people.
View the Source 3. Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome (Wikipedia)
Article text
The condition is caused by mutations on chromosome 8.
History section
The first four cases (a mother, her two sons, and an unrelated boy) were reported in 1993.
View the SourceWikidata: Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
Wikidata Q124096727, class allow-list match (w-wdresolver-0926)View the Source Reader Challenges (0)
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