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ulna metaphyseal dysplasia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ulna metaphyseal dysplasia syndrome

MONDO:0008619

Also known as:Rosenberg-Lohr syndromehereditary bone dysplasia with characteristic bowing and thickening of the distal ulnametaphyseal chondrodysplasia, Rosenberg type

Overview

Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.

GeneticsAutosomal dominant

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: Coxa valga, Delayed skeletal maturation, Abnormality of the vertebral column, and Hypercalcemia and 1 more.

Organ System	Phenotype Count	Example Features
Bones and joints	2	Delayed skeletal maturation, Abnormality of the vertebral column

Explore clinical features

Diagnosis

Biomarker and diagnostic research for ulna metaphyseal dysplasia syndrome has been reported in the published literature.

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 ulna metaphyseal dysplasia syndrome.

126 publications have been identified in PubMed for ulna metaphyseal dysplasia syndrome. Research spans Review / Meta-Analysis (68%), Basic Science / Preclinical (15%), and Epidemiology / Natural History (6%).

Research Type	Count	% of Total
Research summaries	86	68%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:191420

Orphanet

European rare disease database

Orphanet:1837

GARD

Genetic and Rare Diseases Info Center

GARD:4740

Questions for Your Care Team

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ulna metaphyseal dysplasia syndrome

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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