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GENATLAS PHENOTYPE

last update : 09-01-2018

Symbol	MFLS
Location	15q21.1
Name	Marfan lipodystrophy syndrome
Corresponding gene	FBN1
Main clinical features	characterized by congenital lipodystrophy, premature birth with an accelerated linear growth disproportionate to weight gain, and progeroid appearance with distinct facial features, including proptosis, downslanting palpebral fissures, and retrognathia; also arachnodactyly, digital hyperextensibility, myopia, dural ectasia, and normal psychomotor development
Genetic determination	autosomal dominant
Function/system disorder	eye
	multisystem/generalized
	osteo-articular
Type	disease

Remark(s)