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GENATLAS PHENOTYPE

last update : 3/11/2007

Symbol	FGD1
Location	Xp11.21
Name	faciogenital dysplasia
Other name(s)	Aarskog-Scott syndrome . faciodigitogenital syndrome
Corresponding gene	FGD1
Other symbol(s)	AAS, FGDY
Main clinical features	brachydactyly with short stature, multiple limb and genital anomalies including mental retardation, and attention-deficit /hyperactivity disorder . typical craniofacial anomalies, hypertelorism, long philtrum, abnormal auricles, shawl scrotum, and short stature
Genetic determination	sex linked
Function/system disorder	congenital malformation
Type	MCA/MR

Genotype/Phenotype correlations

truncating mutation of the FDG1 gene (c.945insC) associated with one of them displaying unusually severe craniofacial abnormalities . M466V, located in the evolutionary conserved alpha-helix 4 of the RhoGEF domain, associated to Aarskog-Scott syndrome ( may be with focal polymicrogyria )