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van den Ende-Gupta syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

van den Ende-Gupta syndrome

MONDO:0010959

Also known as:Marden-Walker-like syndromeVDEGSMarden Walker like syndrome without psychomotor retardation

Overview

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

GeneticsAutosomal recessive · SCARF2 (chr 22)

ResearchLimited published research (6 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Narrow mouth, Long hallux, Genu valgum, and Pes planus and others; and common findings: Posteriorly rotated ears and Overfolded helix. 63 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	7	Cleft palate, Hypoplasia of the maxilla, High, narrow palate

Genetic Landscape

SCARF2 function has not been fully characterized.

Van den Ende-Gupta syndrome is associated with mutations in the SCARF2 gene on chromosome 22.

Diagnosis

Genetic testing for SCARF2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for van den Ende-Gupta syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 28 always present features, 2 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for van den Ende-Gupta syndrome.

6 publications have been identified in PubMed for van den Ende-Gupta syndrome. Research spans Basic Science / Preclinical (33%), Other (17%), and Diagnostic / Biomarker (17%).

Recent Publications

Srinivasan VM (2026). [PMID: 42204998](https://pubmed.ncbi.nlm.nih.gov/42204998/). *Clin Dysmorphol*. [Diagnostic / Biomarker]
Phadke S (2026). [PMID: 42231755](https://pubmed.ncbi.nlm.nih.gov/42231755/). *Am J Med Genet A*. [Review / Meta-Analysis]
Racine C (2025). [PMID: 40237608](https://pubmed.ncbi.nlm.nih.gov/40237608/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Jha S (2025). [PMID: 40635827](https://pubmed.ncbi.nlm.nih.gov/40635827/). *J Anaesthesiol Clin Pharmacol*. [Other]
Zou Z (2025). [PMID: 39617214](https://pubmed.ncbi.nlm.nih.gov/39617214/). *Free Radic Biol Med*. [Basic Science / Preclinical]
Wang Y (2024). [PMID: 39541158](https://pubmed.ncbi.nlm.nih.gov/39541158/). *Elife*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 6:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600920

Orphanet

European rare disease database

Orphanet:2460

GARD

Genetic and Rare Diseases Info Center

GARD:3382

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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van den Ende-Gupta syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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