A rare autosomal dominant congenital syndrome marked by craniosynostosis, in particular the oxycephaly pattern of premature skull suture fusion, combined with distinctive facial anomalies around the base of the nose and the lips.
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. Craniorhiny (Wikipedia)
lead sentence 1
Craniorhiny is a rare autosomal dominant syndrome characterized by craniosynostosis (oxycephaly) and facial anomalies around the nose base and lips.
History section
The first (and only confirmed) reports of this condition was made in 1991, seen in a father and son.
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