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Van den Ende-Gupta syndrome
rareVan den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.
- Identifiers
- MONDO:0010959 OMIM:600920Orphanet:2460
- Causal genes
- SCARF2
- Part of
- Arthrogryposis multiplex congenitaMultiple congenital anomalies/dysmorphic syndrome without intellectual disability
- Also known as
- Marden Walker like syndrome · Marden Walker like syndrome without psychomotor retardation · Marden-Walker-like syndrome · Van den Ende Gupta syndrome · VDEGS
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