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 First Described Prevalence Band Causative Agent
Causative Agent (category) 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.
View the Source4. Orphadata (Orphanet): Orphadata: Epidemiology of rare diseases (en_product9_prev)
Orphadata (Orphanet)ORPHA:157832Quote, ORPHA:157832
Point prevalence Class only <1 / 1 000 000
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