Van Den Ende-Gupta syndrome

Definition: Van Den Ende-Gupta syndrome (VDEGS) is an extremely rare autosomal-recessive disorder characterized by 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.

Etiology

 germline mutations of SCARF2 in Van Den Ende-Gupta syndrome (VDEGS)

• SCARF2 contains putative epidermal growth factor-like domains in its extracellular domain, along with a number of positively charged residues in its intracellular domain, indicating that it may be involved in intracellular signaling.
• SCARF2 phenotypic effects can be associated with defects in the scavenger receptor F family of genes.

References

 Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome. Anastasio N, Ben-Omran T, Teebi A, Ha KC, Lalonde E, Ali R, Almureikhi M, Der Kaloustian VM, Liu J, Rosenblatt DS, Majewski J, Jerome-Majewska LA. Am J Hum Genet. 2010 Oct 8;87(4):553-9. PMID: #20887961#