ORPHA:2911
Poland syndrome
Synonyms: Poland anomaly · Poland sequence
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare congenital malformation characterized by a unilateral, complete or partial, absence of the pectoralis major (and often minor) muscle, ipsilateral breast and nipple anomalies, hypoplasia of the pectoral subcutaneous tissue, absence of pectoral and axillary hair, and possibly accompanied by chest wall and/or upper limb defects.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Poland syndrome | Poland anomaly · Poland sequence |
| fr | Syndrome de Poland | Anomalie de Poland · Séquence de Poland |
| de | Poland-Syndrom | Poland-Anomalie · Poland-Sequenz |
| es | Síndrome de Poland | |
| it | Sindrome di Poland | |
| nl | Syndroom van Poland | Poland-anomalie · Poland-sequentie |
| pt | Síndrome Poland | Anomalia de Poland · Sequência de Poland |
| pl | Zespół Polanda | Anomalia Polanda · Sekwencja Polanda |
| cs | Polandův syndrom | Polandova anomálie · Polandova sekvence |
| uk | Синдром Поланда | Аномалія Поланда · Послідовність Поланда |
| zh | Poland综合征 | 波伦序列征 |
| tr | Polonya sendromu | Polonya anomalisi · Polonya dizisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 173800 | E | validated | |
| ICD-10 | Q79.8 | NTBT | inclusion | validated |
| ICD-11 | LB73.10 | E | specific | validated |
| MONDO | 0008262 | E | validated | |
| MeSH | D011045 | E | validated | |
| UMLS | C0032357 | E | validated | |
| GARD | 7412 | E | validated | |
| MedDRA | 10036007 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:498454Dysostosis with brachydactyly with extraskeletal manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:180193Syndromic breast hypoplasia/aplasia
rare gynecological and obstetric diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:956Acropectororenal dysplasia moved to · inactive
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3.1 / 100 000 | Canada | Value and class | Validated | 205132[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Canada | Class only | Not yet validated | 205132[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.5 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | ORPHANET_EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
58 annotations · validated 2024-10-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007485 | Absence of subcutaneous fat | |
| HP:0009751 | Aplasia of the pectoralis major muscle | Pathognomonic sign |
| HP:0010311 | Aplasia/Hypoplasia of the breasts | |
| HP:0006709 | Aplasia/Hypoplasia of the nipples | |
| HP:0001555 | Asymmetry of the thorax | |
| Frequent (79-30%) | ||
| HP:0001155 | Abnormality of the hand | |
| HP:0005255 | Absence of pectoralis minor muscle | |
| HP:0009700 | Finger symphalangism | |
| HP:0000089 | Renal hypoplasia | |
| HP:0200055 | Small hand | |
| HP:0006008 | Unilateral brachydactyly | |
| Occasional (29-5%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0031095 | Abnormal humerus morphology | |
| HP:0040071 | Abnormal morphology of ulna | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0000766 | Abnormal sternum morphology | |
| HP:0001392 | Abnormality of the liver | |
| HP:0002814 | Abnormality of the lower limb | |
| HP:0000356 | Abnormality of the outer ear | |
| HP:0004050 | Absent hand | |
| HP:0002488 | Acute leukemia | |
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0006714 | Aplasia/Hypoplasia of the sternum | |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | |
| HP:0001631 | Atrial septal defect | |
| HP:0001156 | Brachydactyly | |
| HP:0010579 | Cone-shaped epiphysis | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0000028 | Cryptorchidism | |
| HP:0001651 | Dextrocardia | |
| HP:0000819 | Diabetes mellitus | |
| HP:0000081 | Duplicated collecting system | |
| HP:0002084 | Encephalocele | |
| HP:0006101 | Finger syndactyly | |
| HP:0001161 | Hand polydactyly | |
| HP:0002937 | Hemivertebrae | |
| HP:0000047 | Hypospadias | |
| HP:0002808 | Kyphosis | |
| HP:0002162 | Low posterior hairline | |
| HP:0000252 | Microcephaly | |
| HP:0000921 | Missing ribs | |
| HP:0000545 | Myopia | |
| HP:0100013 | Neoplasm of the breast | |
| HP:0000768 | Pectus carinatum | |
| HP:0000767 | Pectus excavatum | |
| HP:0002974 | Radioulnar synostosis | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0009594 | Retinal hamartoma | |
| HP:0002650 | Scoliosis | |
| HP:0000470 | Short neck | |
| HP:0000773 | Short ribs | |
| HP:0003298 | Spina bifida occulta | |
| HP:0001171 | Split hand | |
| HP:0000912 | Sprengel anomaly | |
| HP:0000070 | Ureterocele | |
| HP:0003422 | Vertebral segmentation defect | |
| HP:0000076 | Vesicoureteral reflux | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 30335292[PMID]_32758259[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2911
- This record as JSON: /data/d/2911.json