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GENATLAS PHENOTYPE

last update : 3/10/2005

Symbol	CRS6
Location	10q26.13
Name	craniosynostosis, syndromatic 6
Other name(s)	Jackson-Weiss syndrome
Corresponding gene	FGFR2
Other symbol(s)	JWD,JWS
Main clinical features	midfacial hypoplasia and hands/feet anomalies, with great phenotypic variability
Genetic determination	autosomal dominant
Function/system disorder	osteo-articular
	congenital malformation
Type	disease

Gene product

Name	fibroblast growth factor receptor 2 (FGFR2)

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
frameshift		truncated protein

Remark(s)