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overgrowth syndrome with 2q37 translocation - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

overgrowth syndrome with 2q37 translocation

MONDO:0034676

Overview

A rare overgrowth syndrome with skeletal involvement characterized by long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibiae, and dysmorphic facial features (hypertelorism, high palate, or micrognathia), as well as aortic root dilatation and umbilical hernia have also been reported.

ResearchLimited published research (1 article)

Prognosis

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 overgrowth syndrome with 2q37 translocation.

1 publication has been identified in PubMed for overgrowth syndrome with 2q37 translocation. Research spans Epidemiology / Natural History (100%).

Recent Publications

Yue F (2024). [PMID: 38784233](https://pubmed.ncbi.nlm.nih.gov/38784233/). *Frontiers in medicine*. [Epidemiology / Natural History]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 6:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:498488

GARD

Genetic and Rare Diseases Info Center

GARD:22032

Questions for Your Care Team

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overgrowth syndrome with 2q37 translocation

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team