Van den Ende-Gupta syndrome (VDEGS) is a rare hereditary disorder with characteristic craniofacial and skeletal manifestations. Characteristic features of VDEGS include blepharophimosis, malar hypoplasia, narrow nasal bridge, convex nasal ridge everted lower lip, arachnodactyly, camptodactyly, slender ribs, underdeveloped glenoid fossa, and mild bowing of long bones, while growth and development are normal. The pattern of inheritance has been suggested to be autosomal recessive, but several reports have suggested it to be autosomal dominant.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD26 Syndromes with limb anomalies as a major feature
H01886 Van den Ende-Gupta syndrome
