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ulnar-mammary syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ulnar-mammary syndrome

MONDO:0008411

Also known as:Pallister ulnar-mammary syndromeSchinzel SyndromeUMS

Overview

Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.

GeneticsAutosomal dominant · TBX3 (chr 12)

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: Hypoplastic nipples, Micropenis, and Breast hypoplasia; and common findings: Small scrotum, Aplasia of the 5th metacarpal, Aplasia of the 4th finger, and Aplasia of the 3rd finger and others. 43 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	7	Short 5th toe, Aplasia of the 4th finger, Short 4th toe

Genetic Landscape

TBX3 function has not been fully characterized.

Ulnar-mammary syndrome is caused by mutations in the TBX3 gene on chromosome 12.

Diagnosis

Genetic testing for TBX3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 13 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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 ulnar-mammary syndrome.

11 publications have been identified in PubMed for ulnar-mammary syndrome. Research spans Case Report / Case Series (45%), Basic Science / Preclinical (45%), and Review / Meta-Analysis (9%).

Research Type	Count	% of Total
Patient case studies	5	45%

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 2:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:181450

Orphanet

European rare disease database

Orphanet:3138

GARD

Genetic and Rare Diseases Info Center

GARD:118

Questions for Your Care Team

→Should I pursue genetic testing for TBX3, and what would the results mean for my family?
→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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ulnar-mammary syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

ulnar-mammary syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications