Home Page
References OMIM Gene GeneReviews HGMD HGNC
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)