ulnar-mammary syndrome
Findings
No curated finding names ulnar-mammary syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0008411), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Young adult onset
HPO, annotations 2026-09-02
Features
50 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Breast hypoplasiaHPOHP:0003187
- 1 of 1 reported patient · Female
- Hypoplastic nipplesHPOHP:0002557
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- MicropenisHPOHP:0000054
- 2 of 2 reported patients
- Abnormal finger morphologyHPOHP:0001167
- Very frequent (80% to 99% of cases)
- Abnormal fingernail morphologyHPOHP:0001231
- Very frequent (80% to 99% of cases)
- Abnormality of temperature regulationHPOHP:0004370
- Very frequent (80% to 99% of cases)
Show the remaining 38
- Decreased fertilityHPOHP:0000144
- Frequent (30% to 79% of cases)
- Delayed pubertyHPOHP:0000823
- 1 of 3 reported patients
- Frequent (30% to 79% of cases)
- Hypoplasia of penisHPOHP:0008736
- Frequent (30% to 79% of cases)
- ObesityHPOHP:0001513
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Abnormal clavicle morphologyHPOHP:0000889
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TBX3HGNC:11602
- Definitive · G2P · Autosomal dominant · 2023
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: ulnar-mammary syndrome
- Also called
- Pallister ulnar-mammary syndromeSchinzel SyndromeUMS