Term Name:	Van den Ende-Gupta syndrome
Synonyms:	blepharophimosis, arachnodactyly, and congenital contractures, Marden-Walker-like syndrome, Marden-Walker-like syndrome without psychmotor retardation, VDEGS
Definition:	A syndrome characterized by severe contractual arachnodactyly, distinctive facial features, blepharophimosis, and absence of neurological involvement that has_material_basis_in homozygous or compound heterozygous mutation in the SCARF2 gene on chromosome 22q11.21.
Ontology:	Human Disease [DOID:0111699]   ( DOID:0111699 )