Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 25-10-2010
Symbol VDEGS
Location 22q11.21
Name Van Den Ende-Gupta Syndrome
Corresponding gene SCARF2
Main clinical features
  • distinctive craniofacial features, which include blepharophimosis, malar and/or maxillary hypoplasia, a narrow and beaked nose, and an everted lower lip
  • other features are arachnodactyly, camptodactyly, peculiar skeletal abnormalities, and normal development and intelligence
  • also digital contractures that improved spontaneously, elbow deformity, beaked nose, everted lips, and large ears
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    Type malformation