MCID: PLN006
MIFTS: 46

Poland Syndrome

Categories: Bone diseases, Fetal diseases, Oral diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Poland Syndrome

MalaCards integrated aliases for Poland Syndrome:

Name: Poland Syndrome 56 12 74 52 25 58 43 15 71
Poland Sequence 56 52 25 58
Poland Anomaly 56 52 25 58
Poland Syndactyly 56 52 25
Poland's Syndrome 52 25
Unilateral Defect of Pectoralis Muscle and Syndactyly of the Hand 52
Unilateral Defect of Pectoralis Major and Syndactyly of the Hand 25
Poland's Syndactyly 12
Poland's Anomaly 25

Characteristics:

Orphanet epidemiological data:

58
poland syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
poland syndrome:
Inheritance autosomal dominant inheritance


Classifications:

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


Summaries for Poland Syndrome

Genetics Home Reference : 25 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 sequence, is related to craniofrontonasal dysplasia-poland anomaly syndrome and breasts and/or nipples, aplasia or hypoplasia of, 1. 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 heart, and related phenotypes are aplasia/hypoplasia of the nipples and asymmetry of the thorax

NIH Rare Diseases : 52 Poland syndrome is characterized by an underdeveloped or absent chest muscle on one side of the body, absence of the breastbone portion (sternal) of the chest muscle, and webbing of the fingers of the hand on the same side. The cause of Poland syndrome is not known. This syndrome is nearly always sporadic . It tends to occur on the right side and is more common in boys than girls. Treatment typically involves surgical correction of the chest wall deformities.

OMIM : 56 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)

Wikipedia : 74 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 157)
# Related Disease Score Top Affiliating Genes
1 craniofrontonasal dysplasia-poland anomaly syndrome 12.4
2 breasts and/or nipples, aplasia or hypoplasia of, 1 11.5
3 craniofrontonasal syndrome 11.2
4 breasts and/or nipples, aplasia or hypoplasia of, 2 11.2
5 dextrocardia 10.2
6 lymphoma 10.2
7 alopecia 10.2
8 chromosome 2q35 duplication syndrome 10.1
9 pneumothorax, primary spontaneous 10.1
10 infant gynecomastia 10.1
11 gynecomastia 10.1
12 leiomyosarcoma 10.1
13 pectus carinatum 10.1
14 bilateral breast cancer 10.0
15 chiari malformation type i 9.9
16 dowling-degos disease 1 9.9
17 neural tube defects 9.9
18 syringomyelia, noncommunicating isolated 9.9
19 down syndrome 9.9
20 lung cancer 9.9
21 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
22 ichthyosis, x-linked 9.9
23 premature ovarian failure 1 9.9
24 wilms tumor 5 9.9
25 leukemia, acute lymphoblastic 9.9
26 gastric cancer 9.9
27 fibroma 9.9
28 synpolydactyly 9.9
29 ptosis 9.9
30 isolated growth hormone deficiency 9.9
31 lymphocytic leukemia 9.9
32 renal hypertension 9.9
33 anhidrosis 9.9
34 acute leukemia 9.9
35 amenorrhea 9.9
36 thrombocytopenia 9.9
37 heart septal defect 9.9
38 ichthyosis 9.9
39 atrial heart septal defect 9.9
40 retinal vascular disease 9.9
41 syringomyelia 9.9
42 pustulosis of palm and sole 9.9
43 epilepsy with generalized tonic-clonic seizures 9.9
44 psoriasis 9.9
45 neurofibroma 9.9
46 chiari malformation 9.9
47 chromosomal triplication 9.9
48 growth hormone deficiency 9.9
49 headache 9.9
50 thoracic malformation 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 31 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aplasia/hypoplasia of the nipples 58 31 hallmark (90%) Very frequent (99-80%) HP:0006709
2 asymmetry of the thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0001555
3 aplasia of the pectoralis major muscle 58 31 hallmark (90%) Very frequent (99-80%) HP:0009751
4 aplasia/hypoplasia of the breasts 58 31 hallmark (90%) Very frequent (99-80%) HP:0010311
5 absence of subcutaneous fat 31 hallmark (90%) HP:0007485
6 small hand 58 31 frequent (33%) Frequent (79-30%) HP:0200055
7 renal hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000089
8 unilateral brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006008
9 finger symphalangism 58 31 frequent (33%) Frequent (79-30%) HP:0009700
10 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
11 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
12 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
13 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
14 diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000819
15 pectus carinatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000768
16 abnormality of the ulna 58 31 occasional (7.5%) Occasional (29-5%) HP:0002997
17 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
18 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
19 cone-shaped epiphysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0010579
20 reduced bone mineral density 58 31 occasional (7.5%) Occasional (29-5%) HP:0004349
21 low posterior hairline 58 31 occasional (7.5%) Occasional (29-5%) HP:0002162
22 abnormal dermatoglyphics 58 31 occasional (7.5%) Occasional (29-5%) HP:0007477
23 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
24 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
25 sprengel anomaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000912
26 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
27 vesicoureteral reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0000076
28 hemivertebrae 58 31 occasional (7.5%) Occasional (29-5%) HP:0002937
29 hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001161
30 split hand 58 31 occasional (7.5%) Occasional (29-5%) HP:0001171
31 acute leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002488
32 spina bifida occulta 58 31 occasional (7.5%) Occasional (29-5%) HP:0003298
33 congenital diaphragmatic hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000776
34 missing ribs 58 31 occasional (7.5%) Occasional (29-5%) HP:0000921
35 abnormality of the liver 58 31 occasional (7.5%) Occasional (29-5%) HP:0001392
36 neoplasm of the breast 58 31 occasional (7.5%) Occasional (29-5%) HP:0100013
37 encephalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002084
38 dextrocardia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001651
39 aplasia/hypoplasia of the thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0009601
40 abnormality of the lower limb 58 31 occasional (7.5%) Occasional (29-5%) HP:0002814
41 absent hand 58 31 occasional (7.5%) Occasional (29-5%) HP:0004050
42 aplasia/hypoplasia of the radius 58 31 occasional (7.5%) Occasional (29-5%) HP:0006501
43 retinal hamartoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0009594
44 ureterocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0000070
45 abnormality of the humerus 58 31 occasional (7.5%) Occasional (29-5%) HP:0003063
46 short ribs 58 31 occasional (7.5%) Occasional (29-5%) HP:0000773
47 duplicated collecting system 58 31 occasional (7.5%) Occasional (29-5%) HP:0000081
48 abnormality of the outer ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000356
49 aplasia/hypoplasia of the sternum 58 31 occasional (7.5%) Occasional (29-5%) HP:0006714
50 brachydactyly 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
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

GenomeRNAi Phenotypes related to Poland Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability after Maraba virus infection GR00252-A-1 9.28 CCM2 PLAAT2 PLAAT4 PLAAT5
2 Decreased viability after Maraba virus infection GR00252-A-2 9.28 PLAAT2 PLAAT4 PLAAT5
3 Decreased viability after Maraba virus infection GR00252-A-3 9.28 CCM2 PLAAT4

MGI Mouse Phenotypes related to Poland Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.1 ALX3 CCM2 PDCD10 REV3L RIPPLY2 TAF8

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

MalaCards organs/tissues related to Poland Syndrome:

40
Breast, Bone, Heart, Lung, Kidney, Skin, Liver

Publications for Poland Syndrome

Articles related to Poland Syndrome:

(show top 50) (show all 346)
# Title Authors PMID Year
1
Poland syndrome with bilateral features: case description with review of the literature. 61 56
19533787 2009
2
Corroboration of the lower extremity counterpart of the Poland sequence. 61 56
9184248 1997
3
Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome. 61 56
2012136 1991
4
Birth prevalence of Poland sequence and proportion of its familial cases. 61 56
2167612 1990
5
Pectoralis major defect and Poland sequence in second cousins: extension of the Poland sequence spectrum. 61 56
2556919 1989
6
Poland-Möbius syndrome. 61 56
7024548 1981
7
Vascular origin of Poland syndrome? A comparative rheographic study of the vascularisation of the arms in eight patients. 61 56
208850 1978
8
Poland syndrome in British Columbia: incidence and reproductive experience of affected persons. 61 56
205132 1977
9
Report of a girl with Klippel-feil syndrome and Poland anomaly. 56
15658624 2004
10
Möbius syndrome redefined: a syndrome of rhombencephalic maldevelopment. 56
12913192 2003
11
Bilateral Poland anomaly: does it exist? 56
12605453 2003
12
Subclavian artery supply disruption sequence-Klippel-Feil and Mobius anomalies. 56
12061681 2002
13
Bilateral Poland anomaly versus thoracic dysplasia. 56
9880227 1998
14
Bilateral Poland anomaly. 56
9489794 1998
15
Intrafamilial phenotypic heterogeneity of the Poland complex: a case report. 56
8544963 1995
16
A boy with Poland anomaly and facio-auriculo-vertebral dysplasia. 56
1544210 1992
17
Familial liability to intrauterine vascular impairments. 56
2164658 1990
18
Poland anomaly in mother and daughter. 56
2556920 1989
19
Familial absence of the trapezius muscle with associated shoulder girdle abnormalities. 56
3621659 1987
20
Vascular basis for neural tube defects: a hypothesis. 56
3601504 1987
21
Familial occurrence of malformations possibly attributable to vascular abnormalities. 56
3016224 1986
22
Familial occurrence of malformations possibly attributable to vascular abnormalities. 56
3944675 1986
23
Familial absence of the pectoralis major, serratus anterior, and latissimus dorsi muscles. 56
4078869 1985
24
[Pectoralis hand defects (Poland syndactylia)]. 56
6310906 1983
25
Computed tomography of the pectoralis muscles in Poland's syndrome. 56
6303919 1983
26
Posterior shoulder girdle abnormalities with absence of pectoralis major muscle. 56
7180874 1982
27
Familial Poland anomaly. 56
6288948 1982
28
Poland's syndrome: correction with latissimus muscle transposition. 56
7054791 1982
29
Pectoralis major muscle defect and Poland complex. 56
229731 1979
30
Unilateral gluteal hypoplasia and brachysyndactyly: lower extremity counterpart of the Poland anomaly. 56
208046 1978
31
Poland's syndrome--a study of an eponym. 56
191859 1977
32
On the propagation, perpetuation, and parroting of erroneous eponyms such as "Poland's Syndrome". 56
191860 1977
33
Poland's syndrome. 56
175070 1976
34
Dermatoglyphic diagnosis of the poland anomaly in the absence of syndactyly. 56
4461661 1974
35
Nature and etiology of the Poland anomaly. 56
4340236 1972
36
[Clinical and genetic aspects of Poland's syndrome]. 56
4325991 1971
37
Complete breast absence. Case report and review of the literature. 56
5319112 1965
38
Poland's syndactyly. 56
14021589 1962
39
Letter to the Editor: Response to Manzano Surroca et al. "Poland Sequence: Retrospective Analysis of 66 Cases." Annals of Plastic Surgery, May 2019. 61
31913886 2020
40
Poland Syndrome with Atypical Malformations Associated to a de novo 1.5 Mb Xp22.31 Duplication. 61
32016944 2020
41
Pedicled Supraclavicular Flap for Neck Defect Reconstruction in Poland Syndrome. 61
31624453 2019
42
Poland syndrome: unilateral hypoplastic pectoralis major with brachydactyly. 61
31326940 2019
43
Experiences of patients with Poland syndrome of diagnosis and care in Italy: a pilot survey. 61
31753026 2019
44
[Poland syndrome: Presentation of a case]. 61
31727421 2019
45
Imaging of Thoracic Wall Abnormalities. 61
31544369 2019
46
Poland syndrome before Alfred Poland: the oldest medical description (Paris, France, 1803). 61
30937564 2019
47
Breast Reconstruction in Poland Syndrome Patients with Latissimus Dorsi Myo Flap and Implant: An Efficient Endoscopic Approach Using Single Transverse Axillary Incision. 61
30877446 2019
48
An Atypical Case of Poland Syndrome with Bilateral Features and Dextroposition of the Heart: In the work-up of Poland syndrome, different imaging modalities are necessary to depict the full extent of the anomalies. 61
31328180 2019
49
Poland syndrome in an 18-year-old man. 61
31308009 2019
50
Poland Syndrome with Amastia-athelia. 61
31512674 2019

Variations for Poland Syndrome

Copy number variations for Poland Syndrome from CNVD:

7
# 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 multicellular organism development GO:0007275 9.77 WNT10B TAF8 RIPPLY2 CCM2 ALX3
2 lipid metabolic process GO:0006629 9.65 WNT10B PLAAT4 PLAAT3 PLAAT2 PLAAT1
3 lipid catabolic process GO:0016042 9.46 PLAAT4 PLAAT3 PLAAT2 PLAAT1
4 phospholipid metabolic process GO:0006644 9.4 PLAAT4 PLAAT3
5 regulation of fat cell differentiation GO:0045598 9.32 WNT10B TAF8
6 phosphatidylethanolamine acyl-chain remodeling GO:0036152 9.13 PLAAT4 PLAAT3 PLAAT2
7 N-acylphosphatidylethanolamine metabolic process GO:0070292 9.02 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 transferase activity GO:0016740 9.91 REV3L PLAAT5 PLAAT4 PLAAT3 PLAAT2 PLAAT1
2 phospholipase A2 activity GO:0004623 9.8 PLAAT5 PLAAT4 PLAAT3 PLAAT2 PLAAT1
3 phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine) GO:0102568 9.77 PLAAT5 PLAAT4 PLAAT3 PLAAT2 PLAAT1
4 phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine) GO:0102567 9.72 PLAAT5 PLAAT4 PLAAT3 PLAAT2 PLAAT1
5 phospholipase A1 activity GO:0008970 9.65 PLAAT5 PLAAT4 PLAAT3 PLAAT2 PLAAT1
6 phosphatidylserine 1-acylhydrolase activity GO:0052739 9.55 PLAAT5 PLAAT4 PLAAT3 PLAAT2 PLAAT1
7 1-acyl-2-lysophosphatidylserine acylhydrolase activity GO:0052740 9.35 PLAAT5 PLAAT4 PLAAT3 PLAAT2 PLAAT1
8 N-acyltransferase activity GO:0016410 9.02 PLAAT5 PLAAT4 PLAAT3 PLAAT2 PLAAT1

Sources for Poland Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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