Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 05-09-2012
Symbol AOS3
Location 4p15.2
Name Adams-Oliver syndrome 3
Corresponding gene RBPJ
Main clinical features
  • multiple-malformation disorder consisting primarily of aplasia cutis congenita of the vertex scalp and transverse terminal limb defects
  • most common defects are terminal limb malformations (in 84p100 of cases), including osseous syndactyly, rudimentary bones, or completely absent digits
  • Genetic determination autosomal recessive
    autosomal dominant
    Function/system disorder dermatology
    osteo-articular
    Type disease
    Remark(s)