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GENATLAS PHENOTYPE

last update : 30-05-2009

Symbol	FND1
Location	1p13.3
Name	frontonasal dysplasia 1
Other name(s)	frontonasal malformation median facial cleft syndrome frontorhiny
Corresponding gene	ALX3
Other symbol(s)	FND, FNM, FRND
Main clinical features	hypertelorism, abnormal nasal configuration, and oral, palatal, or facial clefting, sometimes associated with facial asymmetry, skin tags, ocular or cerebral malformations, widow's peak, and anterior cranium bifidum
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
Type	disease

Remark(s)

. some forms of FND are due to a gain-of-Hedgehog function and Hedgehog-dependent hyperproliferation of the cranial neural crest (Brugmann 2010)