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GENATLAS PHENOTYPE

last update : 29/09/2005

Symbol	CRS5B
Location	4p16.3
Name	craniosynostosis, syndromatic 5B
Corresponding gene	FGFR3
Other symbol(s)	FCANTK
Main clinical features	Crouzon syndrome and atypical acanthosis nigricans, with choanal atresia and hydrocephalus
Genetic determination	autosomal dominant
Function/system disorder	osteo-articular
	congenital malformation
	dermatology
Type	disease

Gene product

Name	fibroblast growth factor receptor 3 (FGFR3)

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense			Ala391Glu

Remark(s)