Van den Ende-Gupta syndrome

Term ID

DOID:0111699

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. https://www.ncbi.nlm.nih.gov/pubmed/23808541

References

• GARD:3382
• MESH:C535909
• OMIM:600920
• ORDO:2460
• SNOMEDCT_US_2023_03_01:719845008
• UMLS_CUI:C1833136

Ontology

Human Disease   ( DOID:0111699 )