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GENATLAS PHENOTYPE

last update : 13-02-2018

Symbol	RBNS4
Location	17q21.31
Name	Robinow syndrome 4
Corresponding gene	FZD2
Main clinical features	short stature, limb defects, and shared facial characteristics that includes a high, broad forehead, flat face, low-set ears, broad nasal tip broad forehead, midface hypoplasia, hypertelorism, prominent eyes, anteverted nares, gingival hyperplasia, low set ears, mesomelia or micromelia, brachydactyly
Genetic determination	autosomal dominant
Related entries	including case of Omodysplasia, with Robinow syndrome-like phenotypes (PMID: 29383834)
Function/system disorder	eye
	osteo-articular
Type	disease

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