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GENATLAS PHENOTYPE

last update : 15-09-2021

Symbol	BFPH
Location	10q24.32
Name	bilateral femoral and pelvic bones hypoplasia , isolated
Corresponding gene	FGF8
Main clinical features	isolated bilateral congenital lower limb malformation composed of extremely short and hypoplastic femoral bones and moderate hypoplasia of the pelvic bone structures associated , with normal psychomotor development and no other associated abnormalities
Genetic determination	not applicable
Function/system disorder	osteo-articular
Type	disease

Remark(s)

. duplications encompassing FGF8 that result in a regulatory position effect associated with bilateral hypoplasia of the femoral and pelvic bones, and the phenotype is most likely the result of position effects causing altered FGF8 expression rather than gene dosage effects (PMID: 34433009))