Conditions / Syndrome
Van den Ende-Gupta syndrome
info · Syndrome
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
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.
Signs and symptoms
- Narrow mouth
- Long hallux
- Genu valgum
- Pes planus
- Joint hypermobility
- Tapered finger
- Camptodactyly
- Hypoplasia of the maxilla
- High, narrow palate
- Convex nasal ridge
Also known as: Marden-Walker-like syndrome; Marden-Walker-like syndrome without psychmotor retardation; VDEGS; blepharophimosis, arachnodactyly, and congenital contractures