Van den Ende-Gupta syndrome

Definition

Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.

Also known as Marden-Walker-like syndrome, van den Ende-Gupta syndrome, VDEGS — per MONDO

Also identified as

• DOID 0111699 per MONDO
• MESH C535909 per MONDO
• OMIM 600920 per MONDO
• Orphanet 2460 per MONDO
• SCTID 719845008 per MONDO
• UMLS C1833136 per MONDO