MCID: PLN006
MIFTS: 46

Poland Syndrome

Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Nephrological diseases, Oral diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Poland Syndrome

MalaCards integrated aliases for Poland Syndrome:

Name: Poland Syndrome 57 11 19 19 42 58 75 43 14 71 33
Poland Anomaly 57 19 42 58 5
Poland Sequence 57 19 42 58
Poland Syndactyly 57 19 42
Poland's Syndrome 19 42
Brachydactyly, Absent Pectoral Muscles and Agenesis/hypoplasia of Kidneys 19
Unilateral Defect of Pectoralis Muscle and Syndactyly of the Hand 19
Unilateral Defect of Pectoralis Major and Syndactyly of the Hand 42
Acro-Pectoro-Renal Field Defect 19
Poland's Syndactyly 11
Poland's Anomaly 42

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive,Multigenic/multifactorial 58 , Autosomal dominant 57

Prevelance:

1-9/100000 (Canada, Europe, Europe) 58

Age Of Onset:

Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
majority of cases are sporadic
all features are unilateral
occurs on right side in 75% of cases
three times more common in males
pedigrees compatible with autosomal dominant inheritance have been reported
poland syndrome can be associated with moebius syndrome
subclavian artery supply disruption in embryogenesis has been suggested as etiology


Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Poland Syndrome

MedlinePlus Genetics: 42 Poland syndrome is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals.People with Poland syndrome are typically missing part of one of the major chest muscles, called the pectoralis major. In most affected individuals, the missing part is the large section of the muscle that normally runs from the upper arm to the breastbone (sternum). The abnormal pectoralis major muscle may cause the chest to appear concave. In some cases, additional muscles on the affected side of the torso, including muscles in the chest wall, side, and shoulder, may be missing or underdeveloped. There may also be rib cage abnormalities, such as shortened ribs, and the ribs may be noticeable due to less fat under the skin (subcutaneous fat). Breast and nipple abnormalities may also occur, and underarm (axillary) hair is sometimes sparse or abnormally placed. In most cases, the abnormalities in the chest area do not cause health problems or affect movement.Many people with Poland syndrome have hand abnormalities on the affected side, commonly including an underdeveloped hand with abnormally short fingers (brachydactyly); small, underdeveloped (vestigial) fingers; and some fingers that are fused together (syndactyly). This combination of hand abnormalities is called symbrachydactyly. Some affected individuals have only one or two of these features, or have a mild hand abnormality that is hardly noticeable; more severe abnormalities can cause problems with use of the hand. The bones of the forearm (radius and ulna) are shortened in some people with Poland syndrome, but this shortening may also be difficult to detect unless measured.Mild cases of Poland syndrome without hand involvement may not be evident until puberty, when the differences (asymmetry) between the two sides of the chest become more apparent. By contrast, severely affected individuals have abnormalities of the chest, hand, or both that are apparent at birth. In rare cases, severely affected individuals have abnormalities of internal organs such as a lung or a kidney, or the heart is abnormally located in the right side of the chest (dextrocardia).Rarely, chest and hand abnormalities resembling those of Poland syndrome occur on both sides of the body, but researchers disagree as to whether this condition is a variant of Poland syndrome or a different disorder.

MalaCards based summary: Poland Syndrome, also known as poland anomaly, is related to craniofrontonasal dysplasia-poland anomaly syndrome and frontonasal dysplasia-bifid nose-upper limb anomalies syndrome. An important gene associated with Poland Syndrome is PLAAT2 (Phospholipase A And Acyltransferase 2), and among its related pathways/superpathways are Glycerophospholipid biosynthesis and Acyl chain remodelling of PE. Affiliated tissues include breast, bone and lung, and related phenotypes are aplasia/hypoplasia of the nipples and aplasia of the pectoralis major muscle

OMIM®: 57 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 sequence, it was first described by Poland (1841). Poland syndrome is most commonly a sporadic condition (David, 1982; Opitz, 1982), but familial cases have been reported. (173800) (Updated 08-Dec-2022)

GARD: 19 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 sequence, it was first described by Poland (1841).Poland syndrome is most commonly a sporadic condition (David, 1982; Opitz, 1982), but familial cases have been reported.

Orphanet: 58 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.

Disease Ontology: 11 A physical disorder that is characterized by missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand.

Wikipedia: 75 Poland syndrome is a birth defect characterized by an underdeveloped chest muscle and short webbed... more...

Related Diseases for Poland Syndrome

Diseases related to Poland Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 182)
# Related Disease Score Top Affiliating Genes
1 craniofrontonasal dysplasia-poland anomaly syndrome 11.4
2 frontonasal dysplasia-bifid nose-upper limb anomalies syndrome 11.1
3 breasts and/or nipples, aplasia or hypoplasia of, 1 11.1
4 craniofrontonasal syndrome 11.0
5 breasts and/or nipples, aplasia or hypoplasia of, 2 11.0
6 dextrocardia 10.4
7 congenital anomalies of kidney and urinary tract 2 10.3
8 chromosome 2q35 duplication syndrome 10.3
9 alopecia 10.1
10 moebius syndrome 10.0
11 brachydactyly 10.0
12 leiomyosarcoma 10.0
13 pectus carinatum 10.0
14 pectus excavatum 10.0
15 muscular atrophy 10.0
16 bilateral breast cancer 10.0
17 frontonasal dysplasia 1 10.0
18 primary microcephaly 10.0
19 microcephaly 10.0
20 pneumothorax, primary spontaneous 9.9
21 pneumothorax 9.9
22 situs inversus 9.9
23 dextrocardia with situs inversus 9.9
24 adams-oliver syndrome 1 9.9
25 oliver syndrome 9.9
26 adams-oliver syndrome 9.9
27 breast cancer 9.9
28 carpal tunnel syndrome 9.9
29 chiari malformation type i 9.9
30 psoriasis 1 9.9
31 neural tube defects 9.9
32 synpolydactyly 1 9.9
33 down syndrome 9.9
34 wilms tumor 1 9.9
35 lymphoma, hodgkin, classic 9.9
36 short syndrome 9.9
37 mismatch repair cancer syndrome 1 9.9
38 ichthyosis, x-linked 9.9
39 wilms tumor 5 9.9
40 psoriasis 2 9.9
41 psoriasis 7 9.9
42 leukemia, chronic myeloid 9.9
43 psoriasis 11 9.9
44 leukemia, acute lymphoblastic 9.9
45 psoriasis 13 9.9
46 immunodeficiency, common variable, 10 9.9
47 fibroma 9.9
48 synpolydactyly 9.9
49 isolated growth hormone deficiency 9.9
50 diaphragmatic eventration 9.9

Graphical network of the top 20 diseases related to Poland Syndrome:



Diseases related to Poland Syndrome

Symptoms & Phenotypes for Poland Syndrome

Human phenotypes related to Poland Syndrome:

58 30 (show top 50) (show all 67)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aplasia/hypoplasia of the nipples 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006709
2 aplasia of the pectoralis major muscle 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009751
3 asymmetry of the thorax 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001555
4 aplasia/hypoplasia of the breasts 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010311
5 absence of subcutaneous fat 30 Hallmark (90%) HP:0007485
6 renal hypoplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000089
7 small hand 58 30 Frequent (33%) Frequent (79-30%)
HP:0200055
8 unilateral brachydactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0006008
9 finger symphalangism 58 30 Frequent (33%) Frequent (79-30%)
HP:0009700
10 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
11 kyphosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002808
12 short neck 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000470
13 diabetes mellitus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000819
14 pectus carinatum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000768
15 microcephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000252
16 reduced bone mineral density 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004349
17 cryptorchidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000028
18 low posterior hairline 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002162
19 abnormal dermatoglyphics 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007477
20 myopia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000545
21 atrial septal defect 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001631
22 abnormality of the liver 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001392
23 sprengel anomaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000912
24 vesicoureteral reflux 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000076
25 hemivertebrae 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002937
26 split hand 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001171
27 hypospadias 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000047
28 hand polydactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001161
29 spina bifida occulta 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003298
30 congenital diaphragmatic hernia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000776
31 acute leukemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002488
32 finger syndactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006101
33 missing ribs 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000921
34 dextrocardia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001651
35 cone-shaped epiphysis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010579
36 encephalocele 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002084
37 aplasia/hypoplasia of the thumb 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009601
38 abnormality of the lower limb 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002814
39 absent hand 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004050
40 aplasia/hypoplasia of the radius 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006501
41 retinal hamartoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009594
42 abnormality of the humerus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003063
43 neoplasm of the breast 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100013
44 short ribs 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000773
45 duplicated collecting system 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000081
46 abnormality of the outer ear 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000356
47 ureterocele 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000070
48 aplasia/hypoplasia of the sternum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006714
49 abnormal morphology of ulna 30 Occasional (7.5%) HP:0040071
50 abnormality of the ulna 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Chest Ribs Sternum Clavicles And Scapulae:
sprengel anomaly
hypoplastic ribs
fused ribs

Skeletal Hands:
unilateral brachydactyly
unilateral oligodactyly
unilateral syndactyly

Chest External Features:
absence of pectoralis minor muscle
unilateral hypoplasia or absence of pectoralis major muscle

Chest Breasts:
unilateral hypoplasia or absence of nipple
unilateral hypoplasia or absence of areola
unilateral absence of breast

Skeletal Spine:
hemivertebrae

Muscle Soft Tissue:
hypoplasia of deltoid muscle
hypoplasia of serratus anterior muscle
hypoplasia of latissimus dorsi muscle
hypoplasia of infraspinatus muscle
hypoplasia of supraspinatus muscle

Cardiovascular Heart:
dextrocardia (in left-sided poland sequence)

Clinical features from OMIM®:

173800 (Updated 08-Dec-2022)

Drugs & Therapeutics for Poland Syndrome

Search Clinical Trials, NIH Clinical Center for Poland Syndrome

Cochrane evidence based reviews: poland syndrome

Genetic Tests for Poland Syndrome

Anatomical Context for Poland Syndrome

Organs/tissues related to Poland Syndrome:

MalaCards : Breast, Bone, Lung, Kidney, Heart, Skin, Liver

Publications for Poland Syndrome

Articles related to Poland Syndrome:

(show top 50) (show all 703)
# Title Authors PMID Year
1
Poland syndrome with bilateral features: case description with review of the literature. 62 57
19533787 2009
2
Report of a girl with Klippel-feil syndrome and Poland anomaly. 62 57
15658624 2004
3
Bilateral Poland anomaly: does it exist? 62 57
12605453 2003
4
Bilateral Poland anomaly versus thoracic dysplasia. 62 57
9880227 1998
5
Bilateral Poland anomaly. 62 57
9489794 1998
6
Corroboration of the lower extremity counterpart of the Poland sequence. 62 57
9184248 1997
7
A boy with Poland anomaly and facio-auriculo-vertebral dysplasia. 62 57
1544210 1992
8
Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome. 62 57
2012136 1991
9
Birth prevalence of Poland sequence and proportion of its familial cases. 62 57
2167612 1990
10
Poland anomaly in mother and daughter. 62 57
2556920 1989
11
Pectoralis major defect and Poland sequence in second cousins: extension of the Poland sequence spectrum. 62 57
2556919 1989
12
Computed tomography of the pectoralis muscles in Poland's syndrome. 62 57
6303919 1983
13
Familial Poland anomaly. 62 57
6288948 1982
14
Poland's syndrome: correction with latissimus muscle transposition. 62 57
7054791 1982
15
Poland-Möbius syndrome. 62 57
7024548 1981
16
Vascular origin of Poland syndrome? A comparative rheographic study of the vascularisation of the arms in eight patients. 62 57
208850 1978
17
Unilateral gluteal hypoplasia and brachysyndactyly: lower extremity counterpart of the Poland anomaly. 62 57
208046 1978
18
On the propagation, perpetuation, and parroting of erroneous eponyms such as "Poland's Syndrome". 62 57
191860 1977
19
Poland's syndrome--a study of an eponym. 62 57
191859 1977
20
Poland syndrome in British Columbia: incidence and reproductive experience of affected persons. 62 57
205132 1977
21
Poland's syndrome. 62 57
175070 1976
22
Dermatoglyphic diagnosis of the poland anomaly in the absence of syndactyly. 62 57
4461661 1974
23
Nature and etiology of the Poland anomaly. 62 57
4340236 1972
24
[Clinical and genetic aspects of Poland's syndrome]. 62 57
4325991 1971
25
Poland's syndactyly. 62 57
14021589 1962
26
Möbius syndrome redefined: a syndrome of rhombencephalic maldevelopment. 57
12913192 2003
27
Subclavian artery supply disruption sequence-Klippel-Feil and Mobius anomalies. 57
12061681 2002
28
Intrafamilial phenotypic heterogeneity of the Poland complex: a case report. 57
8544963 1995
29
Familial liability to intrauterine vascular impairments. 57
2164658 1990
30
Familial absence of the trapezius muscle with associated shoulder girdle abnormalities. 57
3621659 1987
31
Vascular basis for neural tube defects: a hypothesis. 57
3601504 1987
32
Familial occurrence of malformations possibly attributable to vascular abnormalities. 57
3016224 1986
33
Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomalies. 57
3008556 1986
34
Familial occurrence of malformations possibly attributable to vascular abnormalities. 57
3944675 1986
35
Familial absence of the pectoralis major, serratus anterior, and latissimus dorsi muscles. 57
4078869 1985
36
[Pectoralis hand defects (Poland syndactylia)]. 57
6310906 1983
37
Posterior shoulder girdle abnormalities with absence of pectoralis major muscle. 57
7180874 1982
38
Pectoralis major muscle defect and Poland complex. 57
229731 1979
39
Complete breast absence. Case report and review of the literature. 57
5319112 1965
40
Prevalence of Hand Malformations in Patients With Moebius Syndrome and Their Management. 62
33641474 2022
41
[Lipomodeling for congenital breast deformities: Technique, results and indications]. 62
36031492 2022
42
[Breasts and congenital chest-wall deformities: Surgical strategy with 3D implants]. 62
35931576 2022
43
Poland syndrome: a new classification system based on a retrospective analysis of 74 cases. 62
35701997 2022
44
Sezary syndrome, thyroid carcinoma, and renal carcinoma in a patient with Poland syndrome. 62
36193243 2022
45
Hypothesis: Symbrachydactyly. 62
36073773 2022
46
[Poland's syndrome]. 62
35995703 2022
47
Ravitch surgery or dynamic compression bracing for pectus carinatum: a retrospective cohort study. 62
36395878 2022
48
Untrapped: bilateral hypoplasia of the trapzius muscle. 62
36263506 2022
49
Bilateral Transverse Upper Gracilis Flaps for Unilateral Breast Reconstruction: A 4-Year Retrospective Study of the "2-in-1" Technique and a Systematic Review With Meta-analysis. 62
35502959 2022
50
Poland syndrome associated with lung cancer: A case report. 62
36253266 2022

Variations for Poland Syndrome

ClinVar genetic disease variations for Poland Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 9 genes GRCh37/hg19 2q37.3(chr2:239860877-241385960) CN LOSS Pathogenic
997054 GRCh37: 2:239860877-241385960
GRCh38:

Copy number variations for Poland Syndrome from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 35927 1 69500000 84700000 Deletion Poland''s syndrome
2 104857 16 73300000 78200000 Duplication Poland''s syndrome
3 263628 X 49700000 54700000 Duplication Poland''s syndrome

Expression for Poland Syndrome

Search GEO for disease gene expression data for Poland Syndrome.

Pathways for Poland Syndrome

GO Terms for Poland Syndrome

Biological processes related to Poland Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 localization GO:0051179 9.76 PLAAT3 PLAAT2
2 lipid catabolic process GO:0016042 9.76 PLAAT1 PLAAT2 PLAAT3 PLAAT4
3 DNA-templated DNA replication GO:0006261 9.73 REV3L POLN
4 lipid metabolic process GO:0006629 9.72 PLAAT5 PLAAT4 PLAAT3 PLAAT2 PLAAT1
5 lens fiber cell differentiation GO:0070306 9.71 PLAAT3 PLAAT1
6 organelle disassembly GO:1903008 9.56 PLAAT3 PLAAT1
7 translesion synthesis GO:0019985 9.54 REV3L POLN
8 phosphatidylethanolamine acyl-chain remodeling GO:0036152 9.43 PLAAT4 PLAAT3 PLAAT2
9 N-acylphosphatidylethanolamine metabolic process GO:0070292 9.32 PLAAT5 PLAAT4 PLAAT3 PLAAT2 PLAAT1

Molecular functions related to Poland Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phospholipase A2 activity GO:0004623 10.02 PLAAT5 PLAAT4 PLAAT3 PLAAT2 PLAAT1
2 N-acyltransferase activity GO:0016410 9.96 PLAAT1 PLAAT2 PLAAT3 PLAAT4 PLAAT5
3 transferase activity GO:0016740 9.95 REV3L POLN PLAAT5 PLAAT4 PLAAT3 PLAAT2
4 acyltransferase activity GO:0016746 9.91 PLAAT5 PLAAT4 PLAAT3 PLAAT2
5 phospholipase A1 activity GO:0008970 9.85 PLAAT5 PLAAT4 PLAAT3 PLAAT2 PLAAT1
6 DNA-directed DNA polymerase activity GO:0003887 9.73 REV3L POLN
7 phosphatidylserine 1-acylhydrolase activity GO:0052739 9.65 PLAAT5 PLAAT4 PLAAT3 PLAAT2 PLAAT1
8 phospholipase activity GO:0004620 9.46 PLAAT3 PLAAT1
9 1-acyl-2-lysophosphatidylserine acylhydrolase activity GO:0052740 9.32 PLAAT5 PLAAT4 PLAAT3 PLAAT2 PLAAT1

Sources for Poland Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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