Van den Ende-Gupta syndrome (DOID:0111699)
Alliance: disease page
Synonyms: blepharophimosis, arachnodactyly, and congenital contractures; Marden-Walker-like syndrome; Marden-Walker-like syndrome without psychmotor retardation; VDEGS
Alt IDs: OMIM:600920, MESH:C535909, ORDO:2460, UMLS_CUI:C1833136
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.