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GENATLAS PHENOTYPE
last update : 18/02/2008
Symbol EEC3
Location 3q28
Name ectrodactyly, ectodermal dysplasia, and cleft lip/palate 3
Other name(s) TP63 related disorder
Corresponding gene TP63
Main clinical features
  • one or more features of ectodermal dysplasia (hair, skin, nails, teeth and glands) . ectrodactyly in two-third of patients or syndactyly . cleft lip/palate in about 40 percent, mostly as CL with/without CP
  • Genetic determination autosomal dominant
    Prevalence 10p100 of the SFHM
    Function/system disorder congenital malformation
    osteo-articular
    Type malformation
    Gene product
    Name transcription factor p63, a key regulator of ectodermal, orofacial and limb development
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     mainly in the DBD domain,five hot spot mutations with phenotype correlations
    Remark(s) allelic disorders including SHFM4, AEC, LMS, ADULT, and RHS