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multiple epiphyseal dysplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

multiple epiphyseal dysplasia

MONDO:0016648

Also known as:Dominant Multiple Epiphyseal DysplasiaEDMMED

Overview

Multiple epiphyseal dysplasias (MED/EDMs) are characterized by epiphyseal anomalies causing joint pain early in life, recurrent osteochondritis and early arthrosis. The EDMs are a heterogeneous group of diseases with variable expression classed as MED/EDMs 1-6.

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.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

SLC26A2-related multiple epiphyseal dysplasia (SLC26A2-MED) is characterized by early-onset joint pain, malformations of hands, feet, and knees, and scoliosis. Approximately 50% of affected individuals have an abnormal finding at birth, including clubfoot, clinodactyly, cleft palate, or (rarely) cystic ear swelling. However, only half of those with findings at birth are suspected of having a skeletal dysplasia. Skeletal manifestations. Chronic joint pain most often occurs in the hips, knees, wrists, and fingers. The onset of joint pain is variable; adolescents are usually symptomatic in multiple joints, and joint pain increases after physical exercise.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

SLC26A2-related multiple epiphyseal dysplasia (SLC26A2-MED) should be suspected in individuals with the following clinical and radiographic features.

Clinical features

Joint pain (usually in the hips and knees). Onset of pain is variable, but usually occurs in late childhood. Some individuals have no pain.
Deformity of hands, feet, and knees

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for multiple epiphyseal dysplasia. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease in an individual diagnosed with SLC26A2-related multiple epiphyseal dysplasia (SLC26A2-MED), the following evaluations (if not performed as part of the evaluation that led to the diagnosis) are recommended:

Prognosis

GeneReviews

Surveillance Guidelines

Radiographic surveillance by an orthopedist is appropriate.

Source: GeneReviews — "SLC26A2-Related Multiple Epiphyseal Dysplasia"

Estimated prevalence: 1-9 in 100,000 (Uncommon).

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 multiple epiphyseal dysplasia.

137 publications have been identified in PubMed for multiple epiphyseal dysplasia. Research spans Basic Science / Preclinical (29%), Review / Meta-Analysis (28%), and Case Report / Case Series (18%).

Research Type	Count	% of Total
Laboratory research	40	29%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 12:14 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:251

GARD

Genetic and Rare Diseases Info Center

GARD:10756

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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Kisho

multiple epiphyseal dysplasia

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

COL9A1

Treatment of Manifestations

Surveillance

Agents/Circumstances to Avoid

Evaluation of Relatives at Risk

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

multiple epiphyseal dysplasia

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

COL9A1

Treatment of Manifestations

Surveillance

Agents/Circumstances to Avoid

Evaluation of Relatives at Risk

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications