van den Ende-Gupta syndrome
Findings
No curated finding names van den Ende-Gupta syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.
Definition from the Mondo Disease Ontology (MONDO:0010959), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
60 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- 2-3 toe cutaneous syndactylyHPOHP:0005709
- 4 of 4 reported patients
- CamptodactylyHPOHP:0012385
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Camptodactyly of 2nd-5th fingersHPOHP:0001215
- 4 of 4 reported patients
- Convex nasal ridgeHPOHP:0000444
- 4 of 4 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Distal ulnar hypoplasiaHPOHP:0005033
- 2 of 2 reported patients
Show the remaining 48
- Joint hypermobilityHPOHP:0001382
- 2 of 2 reported patients
- Lateral clavicle hookHPOHP:0000895
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Long halluxHPOHP:0001847
- 3 of 3 reported patients
- MicrognathiaHPOHP:0000347
- 4 of 4 reported patients
- Occasional (5% to 29% of cases)
- Narrow mouthHPOHP:0000160
- 4 of 4 reported patients
- Occasional (5% to 29% of cases)
- Narrow noseHPOHP:0000460
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SCARF2HGNC:19869
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: van den Ende-Gupta syndrome
- Also called
- Marden-Walker-like syndromeVDEGS