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GENATLAS PHENOTYPE
last update : 09-07-2010
Symbol WAD
Location 4p16
Name Weyers acrofacial dysostosis
Corresponding gene EVC , EVC2
Main clinical features
  • condition of hypotelorism, dental abnormalities, postaxial polydactyly, nail dystrophy
  • postaxial polydactyly with anomalies of the lower jaw, dentition and oral vestibule
  • lower and upper incisors were abnormal in shape and number, associated to prominent ear antihelices, hypoplastic and dysplastic nails, and mild shortness of stature
    • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    congenital malformation
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   truncated protein heterozygous deletion in the EVC2
    Remark(s) . phenotypic abnormalities result from tissue specific disruption of the response to Hh ligands (PMID: 19876929 )