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GENATLAS PHENOTYPE

last update : 18-12-2018

Symbol	FACFB
Location	3p25.1
Name	fibular agenesis/ hypoplasia, clubfeet, brachydactyly
Other name(s)	Santos syndrome
Corresponding gene	WNT7A
Other symbol(s)	SS
Main clinical features	short stature due to fibular agenesis or hypoplasia, clubfeet with oligodactyly, acromial dimples, motion limitations of the forearms and/or hands, and severe nail hypoplasia or anonychia that was sometimes associated with brachydactyly, and occasional pre-axial polydactyly
Genetic determination	autosomal dominant
Function/system disorder	osteo-articular
Type	malformation

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