Poland syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
POLAND SYNDACTYLY POLAND SEQUENCE PECTORALIS MUSCLE, ABSENCE OF, INCLUDED poland anomaly Poland sequence |
| Number of Symptoms | 54 |
| OrphanetNr: | 2911 |
| OMIM Id: |
173800
|
| ICD-10: |
Q79.8 |
| UMLs: |
C0032357 |
| MeSH: |
D011045 |
| MedDRA: |
10036007 |
| Snomed: |
38371006 |
Prevalence, inheritance and age of onset:
| Prevalence: | 1.1 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant Not applicable [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Syndrome with brachydactyly
-Rare bone disease -Rare developmental defect during embryogenesis Syndromic breast hypoplasia/aplasia -Rare gynecologic or obstetric disease |
Symptom Information:
|
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(HPO:0008678) | Renal hypoplasia/aplasia | Occasional [Orphanet] | 127 / 7739 | |||
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(HPO:0002162) | Low posterior hairline | Occasional [Orphanet] | 88 / 7739 | |||
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(HPO:0000470) | Short neck | Occasional [Orphanet] | 345 / 7739 | |||
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(HPO:0000252) | Microcephaly | Occasional [Orphanet] | 832 / 7739 | |||
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(HPO:0009594) | Retinal hamartoma | Occasional [Orphanet] | 5 / 7739 | |||
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(HPO:0100013) | Neoplasm of the breast | Occasional [Orphanet] | 18 / 7739 | |||
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(HPO:0100783) | Breast aplasia | Very frequent [Orphanet] | 19 / 7739 | |||
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(HPO:0006709) | Aplasia/Hypoplasia of the nipples | Very frequent [Orphanet] | 28 / 7739 | |||
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(HPO:0000769) | Abnormality of the breast | 5 / 7739 | ||||
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(HPO:0006230) | Unilateral oligodactyly | 1 / 7739 | ||||
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(HPO:0000912) | Sprengel anomaly | 51 / 7739 | ||||
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(HPO:0001155) | Abnormality of the hand | Frequent [Orphanet] | 54 / 7739 | |||
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(HPO:0003468) | Abnormality of the vertebrae | Occasional [Orphanet] | 77 / 7739 | |||
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(HPO:0004279) | Short palm | Frequent [Orphanet] | 323 / 7739 | |||
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(HPO:0002814) | Abnormality of the lower limb | Occasional [Orphanet] | 23 / 7739 | |||
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(HPO:0002997) | Abnormality of the ulna | Occasional [Orphanet] | 75 / 7739 | |||
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(HPO:0010579) | Cone-shaped epiphysis | Occasional [Orphanet] | 54 / 7739 | |||
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(HPO:0002818) | Abnormality of the radius | Occasional [Orphanet] | 96 / 7739 | |||
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(HPO:0004349) | Reduced bone mineral density | Occasional [Orphanet] | 165 / 7739 | |||
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(HPO:0001555) | Asymmetry of the thorax | Very frequent [Orphanet] | 15 / 7739 | |||
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(HPO:0004050) | Absent hand | Occasional [Orphanet] | 9 / 7739 | |||
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(HPO:0002937) | Hemivertebrae | 41 / 7739 | ||||
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(HPO:0000766) | Abnormality of the sternum | Occasional [Orphanet] | 31 / 7739 | |||
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(HPO:0002650) | Scoliosis | Occasional [Orphanet] | 705 / 7739 | |||
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(HPO:0009751) | Aplasia of the pectoralis major muscle | Very frequent [Orphanet] | 8 / 7739 | |||
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(HPO:0001159) | Syndactyly | 140 / 7739 | ||||
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(HPO:0000902) | Rib fusion | 19 / 7739 | ||||
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(HPO:0000772) | Abnormality of the ribs | Occasional [Orphanet] | 146 / 7739 | |||
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(HPO:0006008) | Unilateral brachydactyly | 1 / 7739 | ||||
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(HPO:0009380) | Aplasia of the fingers | Frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0006101) | Finger syndactyly | Frequent [Orphanet] | 198 / 7739 | |||
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(HPO:0000773) | Short ribs | 70 / 7739 | ||||
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(HPO:0009601) | Aplasia/Hypoplasia of the thumb | Occasional [Orphanet] | 80 / 7739 | |||
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(HPO:0003063) | Abnormality of the humerus | Occasional [Orphanet] | 36 / 7739 | |||
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(HPO:0000775) | Abnormality of the diaphragm | Occasional [Orphanet] | 62 / 7739 | |||
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(HPO:0001080) | Biliary tract abnormality | Occasional [Orphanet] | 26 / 7739 | |||
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(HPO:0000951) | Abnormality of the skin | Very frequent [Orphanet] | 147 / 7739 | |||
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(HPO:0007477) | Abnormal dermatoglyphics | Occasional [Orphanet] | 72 / 7739 | |||
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(HPO:0001651) | Dextrocardia | Occasional [Orphanet] | 38 / 7739 | |||
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(HPO:0002488) | Acute leukemia | Occasional [Orphanet] | 29 / 7739 | |||
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(HPO:0009026) | Hypoplasia of latissimus dorsi muscle | 1 / 7739 | ||||
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(HPO:0005256) | Unilateral absence of pectoralis major muscle | 1 / 7739 | ||||
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(HPO:0011959) | Unilateral hypoplasia of pectoralis major muscle | 1 / 7739 | ||||
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(HPO:0009011) | Hypoplasia of serratus anterior muscle | 1 / 7739 | ||||
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(HPO:0005255) | Absence of pectoralis minor muscle | 2 / 7739 | ||||
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(OMIM) | Hypoplasia of supraspinatus muscle | 1 / 7739 | ||||
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(OMIM) | Unilateral hypoplasia or absence of nipple | 1 / 7739 | ||||
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(OMIM) | Unilateral syndactyly | 1 / 7739 | ||||
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(OMIM) | Unilateral hypoplasia or absence of areola | 1 / 7739 | ||||
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(HPO:0030241) | Hypoplasia of deltoid muscle | 2 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Unilateral hypoplasia or absence of pectoralis major muscle | 1 / 7739 | ||||
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(OMIM) | Unilateral absence of breast | 1 / 7739 | ||||
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(OMIM) | Hypoplasia of infraspinatus muscle | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
Poland syndrome consists of unilateral absence or hypoplasia of the pectoralis muscle, most frequently involving the sternocostal portion of the pectoralis major muscle, and a variable degree of ipsilateral hand and digit anomalies, including symbrachydactyly. Sometimes called Poland ... |
| Clinical Description OMIM |
McGillivray and Lowry (1977) ascertained 44 cases of Poland syndrome in British Columbia. There were no familial cases. There was a male predominance (27:17). All had absence of the sternal portion of the pectoralis major muscle with variable ... |
| Population genetics OMIM |
In British Columbia, McGillivray and Lowry (1977) found an incidence of Poland syndrome of 1 per 32,000 live births. Czeizel et al. (1990) reported that in Hungary for the period 1975 to 1984 there was 1 ... |