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upper limb mesomelic dysplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

upper limb mesomelic dysplasia

MONDO:0008620

Also known as:Fryns-Hofkens-Fabry syndromeulna hypoplasiaulnar hypoplasia

Overview

This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity.

GeneticsAutosomal dominant

OnsetADULT

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: Hypoplasia of the ulna, Ulnar deviation of the hand, Distal ulnar hypoplasia, and Mesomelic arm shortening and 3 more.

Organ System	Phenotype Count	Example Features
Arms and legs	1	Ulnar deviation of the hand

Age of onset: adulthood.

Explore clinical features

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 upper limb mesomelic dysplasia.

3 publications have been identified in PubMed for upper limb mesomelic dysplasia. Research spans Case Report / Case Series (67%) and Basic Science / Preclinical (33%).

Recent Publications

Deng M (2026). [PMID: 41424369](https://pubmed.ncbi.nlm.nih.gov/41424369/). *Genet Med*. [Basic Science / Preclinical]
Zhou C (2025). [PMID: 40445021](https://pubmed.ncbi.nlm.nih.gov/40445021/). *Prenat Diagn*. [Case Report / Case Series]
Kantiwal P (2024). [PMID: 39035397](https://pubmed.ncbi.nlm.nih.gov/39035397/). *J Orthop Case Rep*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 17, 2026, 7:31 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:191440

Orphanet

European rare disease database

Orphanet:2497

GARD

Genetic and Rare Diseases Info Center

GARD:2408

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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upper limb mesomelic dysplasia

Overview

Clinical Presentation

Explore clinical features

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

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