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short stature, microcephaly, and endocrine dysfunction (SSMED) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

short stature, microcephaly, and endocrine dysfunction

MONDO:0014686

Also known as:SSMED

Overview

GeneticsAutosomal recessive · XRCC4 (chr 5)

OnsetADULT, CONGENITAL

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: Short stature, Ataxia, Sensory axonal neuropathy, and Nystagmus and others; and common findings: Enlarged and weakened heart (dilated cardiomyopathy). 56 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Ataxia, Sensory axonal neuropathy, Dysarthria

Genetic Landscape

XRCC4 function has not been fully characterized.

Short stature, microcephaly, and endocrine dysfunction is associated with mutations in the XRCC4 gene on chromosome 5.

Diagnosis

Genetic testing for XRCC4 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 12 always present features, 1 common feature.

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 short stature, microcephaly, and endocrine dysfunction.

3 publications have been identified in PubMed for short stature, microcephaly, and endocrine dysfunction. Research spans Review / Meta-Analysis (67%) and Case Report / Case Series (33%).

Recent Publications

Cuinat S (2025). [PMID: 40114033](https://pubmed.ncbi.nlm.nih.gov/40114033/). *European journal of human genetics : EJHG*. [Case Report / Case Series]
Di Pasquale G (2025). [PMID: 40970566](https://pubmed.ncbi.nlm.nih.gov/40970566/). *Clinical genetics*. [Review / Meta-Analysis]
Samhani C (2024). [PMID: 39243962](https://pubmed.ncbi.nlm.nih.gov/39243962/). *Diabetes & metabolism*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:03 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616541

GARD

Genetic and Rare Diseases Info Center

GARD:18483

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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short stature, microcephaly, and endocrine dysfunction

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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