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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 13/12/2008
Symbol OFD1
Location Xp22.2
Name orofaciodigital syndrome type 1
Other name(s)
  • Gorlin-Psaume syndrome
  • Papillon-League-Psaume syndrome
  • Corresponding gene OFD1
    Main clinical features
  • male-lethal X-linked dominant developmental disorder
  • polycystic kidneys ( present in 60p100 of cases >18 years ), progressive renal failure, hydocephalus and malformations of the face, oral cavity, and digits
  • agenesis of corpus callosum
  • Genetic determination sex linked
    Function/system disorder congenital malformation
    kidney and urinary tract
    Type disease
    Genotype/Phenotype correlations high-arched/cleft palate most frequently associated to missense and splice-site mutations