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mesomelia-synostoses syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mesomelia-synostoses syndrome

MONDO:0010881

Also known as:8q13 microdeletion syndromeDel(8)q(13)Verloes-David syndrome

Overview

A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies.

GeneticsAutosomal dominant

ResearchLimited published research (3 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: Tibial bowing, Short foot, Absent uvula, and Tarsometatarsal synostosis and others; and very common findings: Distal femoral bowing and Short metatarsal. 32 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	5	Short foot, Ulnar deviation of the hand or of fingers of the hand, Ulnar deviation of the hand

Prognosis

Phenotype severity distribution: 14 always present features, 2 very common features, 4 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 mesomelia-synostoses syndrome.

3 publications have been identified in PubMed for mesomelia-synostoses syndrome. Research spans Review / Meta-Analysis (67%) and Epidemiology / Natural History (33%).

Recent Publications

Aubert Mucca M (2026). [PMID: 41339098](https://pubmed.ncbi.nlm.nih.gov/41339098/). *Clinical genetics*. [Epidemiology / Natural History]
Leduc F (2025). [PMID: 40673520](https://pubmed.ncbi.nlm.nih.gov/40673520/). *Clinical genetics*. [Review / Meta-Analysis]
Bendas Feres Lima I (2024). [PMID: 38992676](https://pubmed.ncbi.nlm.nih.gov/38992676/). *Molecular cytogenetics*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600383

Orphanet

European rare disease database

Orphanet:2496

GARD

Genetic and Rare Diseases Info Center

GARD:4302

Questions for Your Care Team

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mesomelia-synostoses syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

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