Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

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

Remark(s)