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GENATLAS PHENOTYPE

last update : 15-04-2015

Symbol	RBNS2
Location	3p14.3
Name	Robinow syndrome 2
Other name(s)	dominant Robinow syndrome
Corresponding gene	WNT5A
Other symbol(s)	DRS
Main clinical features	mesomelic limb shortening associated with facial and genital abnormalities hypertelorism, large nasal bridge, short upturned nose, midface hypoplasia, mesomelic limb shortening, brachydactyly, clinodactyly, micropenis, and short stature umbilical hernia (32p100) and supernumerary teeth (10p100) were found exclusively in patients with the dominant form
Genetic determination	autosomal dominant
Function/system disorder	osteo-articular
	multisystem/generalized
Type	malformation

Remark(s)