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.
カテゴリ
先天奇形
階層分類
ICD-11 による疾患分類 [BR:jp08403]
20 発達異常
多発性の発達異常または症候群
LD26 主な特徴として肢の異常を伴う症候群
H01886 Van den Ende-Gupta 症候群
