Poland syndrome
MONDO:0008262Mondo
Findings
No curated finding names Poland syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly.
Definition from the Mondo Disease Ontology (MONDO:0008262), read 2026-09-29. CC BY 4.0.
Features
58 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.
- Absence of subcutaneous fatHPOHP:0007485
- Very frequent (80% to 99% of cases)
- Aplasia of the pectoralis major muscleHPOHP:0009751
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the breastsHPOHP:0010311
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the nipplesHPOHP:0006709
- Very frequent (80% to 99% of cases)
- Asymmetry of the thoraxHPOHP:0001555
- Very frequent (80% to 99% of cases)
- Abnormality of the handHPOHP:0001155
- Frequent (30% to 79% of cases)
- Absence of pectoralis minor muscleHPOHP:0005255
- Frequent (30% to 79% of cases)
- Finger symphalangismHPOHP:0009700
- Frequent (30% to 79% of cases)
- Renal hypoplasiaHPOHP:0000089
- Frequent (30% to 79% of cases)
- Small handHPOHP:0200055
- Frequent (30% to 79% of cases)
- Unilateral brachydactylyHPOHP:0006008
- Frequent (30% to 79% of cases)
- Abnormal dermatoglyphicsHPOHP:0007477
- Occasional (5% to 29% of cases)
Show the remaining 46
- Abnormal humerus morphologyHPOHP:0031095
- Occasional (5% to 29% of cases)
- Abnormal morphology of ulnaHPOHP:0040071
- Occasional (5% to 29% of cases)
- Abnormal rib morphologyHPOHP:0000772
- Occasional (5% to 29% of cases)
- Abnormal sternum morphologyHPOHP:0000766
- Occasional (5% to 29% of cases)
- Abnormality of the liverHPOHP:0001392
- Occasional (5% to 29% of cases)
- Abnormality of the lower limbHPOHP:0002814
- Occasional (5% to 29% of cases)
Where it sits
Other names
2 names
Resolves to: Poland syndrome
- Also called
- Poland anomalyPoland sequence