Van den Ende-Gupta syndrome

Definition:

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.

References:

[1]. Christopher W Carr, et al. Van den Ende-Gupta syndrome: laryngeal abnormalities in two siblings. Am J Med Genet A. 2007 Nov 15;143A(22):2706-11. [Content Brief]

[2]. J J van den Ende, et al. Marden-Walker-like syndrome without psychomotor retardation: report of a Brazilian girl born to consanguineous parents. Am J Med Genet. 1992 Feb 15;42(4):467-9. [Content Brief]

[3]. Natascia Anastasio, et al. Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome. Am J Hum Genet. 2010 Oct 8;87(4):553-9. [Content Brief]

[4]. Rehab Ali, et al. Further delineation of the Van den Ende-Gupta syndrome. Am J Med Genet A. 2010 Dec;152A(12):3095-100. [Content Brief]

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