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GENATLAS PHENOTYPE
last update : 06-10-2014
Symbol AOS5
Location 9q34.3
Name Adams-Oliver syndrome 5
Corresponding gene NOTCH1
Main clinical features
  • aplasia cutis of the scalp and terminal transverse limb defects
  • amputations, syndactyly, brachydactyly, or oligodactyly, vascular anomalies, such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypovascularization
  • Genetic determination autosomal recessive
    Prevalence the most common cause of AOS
    Function/system disorder dermatology
    osteo-articular
    Type disease
    Remark(s)