Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 20-04-2010

Symbol	SSKS
Location	15q21.1
Name	stiff skin syndrome
Corresponding gene	FBN1
Main clinical features	characterized by hard, thick skin of the entire body and limitation of joint mobility with flexion contractures thickened and indurated skin of the entire body and other occasional findings including lipodystrophy and muscle weakness
Genetic determination	autosomal dominant
Function/system disorder	dermatology
	osteo-articular
Type	disease

Remark(s)