limb-mammary syndrome
MONDO:0011334Mondo
Findings
No curated finding names limb-mammary syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.
Definition from the Mondo Disease Ontology (MONDO:0011334), read 2026-09-29. CC BY 4.0.
Features
32 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.
- Absent lacrimal punctumHPOHP:0001092
- Frequent (30% to 79% of cases)
- Absent nippleHPOHP:0002561
- Frequent (30% to 79% of cases)
- Bilateral breast hypoplasiaHPOHP:0012814
- Frequent (30% to 79% of cases)
- Breast aplasiaHPOHP:0100783
- Frequent (30% to 79% of cases)
- Hypoplastic nipplesHPOHP:0002557
- Frequent (30% to 79% of cases)
- Lacrimal duct atresiaHPOHP:0000564
- Frequent (30% to 79% of cases)
- 3-4 finger cutaneous syndactylyHPOHP:0011939
- Occasional (5% to 29% of cases)
- Bifid uvulaHPOHP:0000193
- Occasional (5% to 29% of cases)
- BlepharitisHPOHP:0000498
- Occasional (5% to 29% of cases)
- Chronic irritative conjunctivitisHPOHP:0007717
- Occasional (5% to 29% of cases)
- Cleft hard palateHPOHP:0410005
- Occasional (5% to 29% of cases)
- Cleft lipHPOHP:0410030
- Occasional (5% to 29% of cases)
Show the remaining 20
- Cleft palateHPOHP:0000175
- Occasional (5% to 29% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Occasional (5% to 29% of cases)
- Dry skinHPOHP:0000958
- Occasional (5% to 29% of cases)
- HypodontiaHPOHP:0000668
- Occasional (5% to 29% of cases)
- HypohidrosisHPOHP:0000966
- Occasional (5% to 29% of cases)
- Nail dysplasiaHPOHP:0002164
- 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.
- TP63HGNC:15979
- Definitive · G2P · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: limb-mammary syndrome
- Also called
- LMS