Craniosynostosis and dental anomalies, also called Kreiborg-Pakistani syndrome, is an autosomal recessive condition caused by mutations in the IL11RA gene on chromosome 9. It combines premature fusion of the skull sutures with an underdeveloped upper jaw and dental problems including malocclusion, delayed tooth eruption, and extra teeth, and it can also involve limb, eye, hearing, and other skeletal differences.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 1 Communicable or Non-communicable Transmission Route 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
View the Source 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 and dental anomalies (Wikipedia)
lead sentence 1Quote, lead sentence 1
Craniosynostosis and dental anomalies (CRSDA, also known as Kreiborg-Pakistani syndrome) is an autosomal recessive syndrome characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies.
View the Source Reader Challenges (0)
No disputes yet. Spotted an error or a better source? Open the first one.
Sign in to dispute this or suggest a correction.