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GENATLAS PHENOTYPE

last update : 14-01-2012

Symbol	WMSAD
Location	15q21.1
Name	Weill-Marchesani syndrome
Other name(s)	spherophakia-brachymorphia syndrome mesodermal dysmorphodystrophy, congenital
Corresponding gene	FBN1
Other symbol(s)	WMS, WMS1
Main clinical features	short stature, brachydactyly, joint stiffness and characteristic eye abnormalities (ectopia lentis, glaucoma, microspherophakia) repeated attacks of acute congestive glaucoma starting in early childhood (PMID: 21402694))
Genetic determination	autosomal dominant
Function/system disorder	eye
	congenital malformation
Type	disease

Gene product

Name	fibrilin 1

Remark(s)