CDAGS syndrome, also known as CAP syndrome, is a very rare genetic disorder characterized by craniosynostosis and other cranial defects, delayed closure of the fontanelles, deafness, anal anomalies, genital malformations, and skin eruption. It is caused by heterozygous compound variants in the RNU12 gene, which disrupt the function of the minor spliceosome, and is inherited in an autosomal recessive pattern. Only 14 cases were known worldwide as of the source consulted.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) Sources
1. Wikipedia: CDAGS syndrome
WikipediaLead section (causative-agent-category)
CDAGS is caused by heterozygotic compound variants in the RNU12 gene, which disrupts the function of the minor spliceosome.
Lead section, body-system statement
CDAGS syndrome, also known as CAP syndrome, is a very rare syndrome characterized by craniosynostosis and other cranial defects, delayed closure of the fontanelles, deafness, anal anomalies, genital malformations and skin eruption.
View the Source 2. Wikipedia: ICD-10
WikipediaList of chapters, Chapter XVIIQuote, List of chapters, Chapter XVII
Congenital malformations, deformations and chromosomal abnormalities
3. 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.
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