MCID: PLN006
MIFTS: 45

Poland Syndrome

Categories: Oral diseases, Rare diseases

Aliases & Classifications for Poland Syndrome

MalaCards integrated aliases for Poland Syndrome:

Name: Poland Syndrome 57 12 76 53 25 44 15 73
Poland Syndactyly 57 53 25
Poland Sequence 57 53 25
Poland Anomaly 57 53 25
Poland's Syndrome 53 25
Unilateral Defect of Pectoralis Muscle and Syndactyly of the Hand 53
Unilateral Defect of Pectoralis Major and Syndactyly of the Hand 25
Poland's Syndactyly 12
Poland's Anomaly 25

Characteristics:

OMIM:

57
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:

32
poland syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Poland Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Poland Syndrome, also known as poland syndactyly, 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 REV3L (REV3 Like, DNA Directed Polymerase Zeta Catalytic Subunit), and among its related pathways/superpathways are Glycerophospholipid biosynthesis and Acyl chain remodelling of PE. Affiliated tissues include liver, bone and skin, and related phenotypes are short neck and finger syndactyly

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.

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)

Wikipedia : 76 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 all 50)
# Related Disease Score Top Affiliating Genes
1 craniofrontonasal dysplasia-poland anomaly syndrome 12.2
2 breasts and/or nipples, aplasia or hypoplasia of, 1 11.1
3 craniofrontonasal syndrome 11.1
4 breasts and/or nipples, aplasia or hypoplasia of, 2 11.1
5 dextrocardia 10.1
6 chromosome 16p13.3 deletion syndrome, proximal 10.0 VPS13B LRP4
7 frontonasal dysplasia 1 9.9
8 primary microcephaly 9.9
9 microcephaly 9.9
10 breast reconstruction 9.8
11 adams-oliver syndrome 1 9.8
12 oliver syndrome 9.8
13 adams-oliver syndrome 9.8
14 breast cancer 9.7
15 muscular atrophy 9.7
16 klippel-feil syndrome 9.7
17 dysostosis 9.7
18 hydranencephaly 9.7
19 carey-fineman-ziter syndrome 9.6
20 myopathy, congenital 9.6
21 myopathy 9.6
22 moebius syndrome 9.6
23 pectus excavatum 9.6
24 pernicious anemia 9.6
25 renal hypodysplasia/aplasia 1 9.6
26 neuroblastoma 9.6
27 hyperinsulinemic hypoglycemia, familial, 3 9.6
28 hyperinsulinemic hypoglycemia, familial, 5 9.6
29 hyperinsulinemic hypoglycemia, familial, 4 9.6
30 pulmonary hypertension 9.6
31 hemangioma 9.6
32 leukemia 9.6
33 spinal muscular atrophy 9.6
34 ductal carcinoma in situ 9.6
35 myelomeningocele 9.6
36 hypogonadotropic hypogonadism 9.6
37 hemopericardium 9.6
38 pericardial effusion 9.6
39 pneumothorax 9.6
40 mitral valve stenosis 9.6
41 hypogonadism 9.6
42 hyperinsulinism 9.6
43 hidradenitis suppurativa 9.6
44 hidradenitis 9.6
45 iron metabolism disease 9.6
46 thoracic outlet syndrome 9.6
47 situs inversus 9.6
48 in situ carcinoma 9.6
49 aberrant subclavian artery 9.6
50 germ cells tumors 9.6

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



Diseases related to Poland Syndrome

Symptoms & Phenotypes for Poland Syndrome

Symptoms via clinical synopsis from OMIM:

57
Chest Ribs Sternum Clavicles And Scapulae:
sprengel anomaly
hypoplastic ribs
fused ribs

Skeletal Hands:
unilateral brachydactyly
unilateral syndactyly
unilateral oligodactyly

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

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

Skeletal Spine:
hemivertebrae

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

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


Clinical features from OMIM:

173800

Human phenotypes related to Poland Syndrome:

32 (show top 50) (show all 59)
# Description HPO Frequency HPO Source Accession
1 short neck 32 occasional (7.5%) HP:0000470
2 finger syndactyly 32 occasional (7.5%) HP:0006101
3 diabetes mellitus 32 occasional (7.5%) HP:0000819
4 scoliosis 32 occasional (7.5%) HP:0002650
5 kyphosis 32 occasional (7.5%) HP:0002808
6 pectus carinatum 32 occasional (7.5%) HP:0000768
7 abnormality of the ulna 32 occasional (7.5%) HP:0002997
8 microcephaly 32 occasional (7.5%) HP:0000252
9 cone-shaped epiphysis 32 occasional (7.5%) HP:0010579
10 reduced bone mineral density 32 occasional (7.5%) HP:0004349
11 cryptorchidism 32 occasional (7.5%) HP:0000028
12 aplasia/hypoplasia of the nipples 32 hallmark (90%) HP:0006709
13 low posterior hairline 32 occasional (7.5%) HP:0002162
14 abnormal dermatoglyphics 32 occasional (7.5%) HP:0007477
15 myopia 32 occasional (7.5%) HP:0000545
16 atrial septal defect 32 occasional (7.5%) HP:0001631
17 sprengel anomaly 32 occasional (7.5%) HP:0000912
18 hypospadias 32 occasional (7.5%) HP:0000047
19 small hand 32 frequent (33%) HP:0200055
20 vesicoureteral reflux 32 occasional (7.5%) HP:0000076
21 renal hypoplasia 32 frequent (33%) HP:0000089
22 hand polydactyly 32 occasional (7.5%) HP:0001161
23 split hand 32 occasional (7.5%) HP:0001171
24 acute leukemia 32 occasional (7.5%) HP:0002488
25 spina bifida occulta 32 occasional (7.5%) HP:0003298
26 hemivertebrae 32 occasional (7.5%) HP:0002937
27 rib fusion 32 HP:0000902
28 missing ribs 32 occasional (7.5%) HP:0000921
29 abnormality of the liver 32 occasional (7.5%) HP:0001392
30 neoplasm of the breast 32 occasional (7.5%) HP:0100013
31 encephalocele 32 occasional (7.5%) HP:0002084
32 dextrocardia 32 occasional (7.5%) HP:0001651
33 congenital diaphragmatic hernia 32 occasional (7.5%) HP:0000776
34 aplasia/hypoplasia of the thumb 32 occasional (7.5%) HP:0009601
35 abnormality of the lower limb 32 occasional (7.5%) HP:0002814
36 absent hand 32 occasional (7.5%) HP:0004050
37 aplasia/hypoplasia of the radius 32 occasional (7.5%) HP:0006501
38 asymmetry of the thorax 32 hallmark (90%) HP:0001555
39 retinal hamartoma 32 occasional (7.5%) HP:0009594
40 aplasia of the pectoralis major muscle 32 hallmark (90%) HP:0009751
41 aplasia/hypoplasia of the breasts 32 hallmark (90%) HP:0010311
42 abnormality of the humerus 32 occasional (7.5%) HP:0003063
43 syndactyly 32 HP:0001159
44 unilateral brachydactyly 32 frequent (33%) HP:0006008
45 unilateral hypoplasia of pectoralis major muscle 32 HP:0011959
46 short ribs 32 occasional (7.5%) HP:0000773
47 ureterocele 32 occasional (7.5%) HP:0000070
48 duplicated collecting system 32 occasional (7.5%) HP:0000081
49 abnormality of the outer ear 32 occasional (7.5%) HP:0000356
50 abnormality of the breast 32 HP:0000769

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:

41
Liver, Bone, Skin, Spleen, Retina

Publications for Poland Syndrome

Articles related to Poland Syndrome:

(show top 50) (show all 153)
# Title Authors Year
1
Comparison of objective and subjective evaluation of breast symmetrization results in patients with Poland syndrome. ( 29513249 )
2018
2
Anaesthesia for chest wall reconstruction in a patient with Poland syndrome: CARE-compliant case report and literature review. ( 29793431 )
2018
3
Poland Syndrome. ( 29298145 )
2018
4
Poland syndrome and pneumothorax: the compelling evidence of an association. ( 30292324 )
2018
5
Controversies in Poland Syndrome: Alternative Diagnoses in Patients With Congenital Pectoral Muscle Deficiency. ( 29033291 )
2018
6
Successful use of adipose-derived mesenchymal stem cells to correct a male breast affected by Poland Syndrome: a case report. ( 30002805 )
2018
7
Correcting Poland Syndrome with a Custom-Made Silicone Implant: Contribution of Three-Dimensional Computer-Aided Design Reconstruction. ( 30045173 )
2018
8
Poland syndrome: A proposed classification system and perspectives on diagnosis and treatment. ( 30078491 )
2018
9
The value of full-body skin examination: Poland syndrome diagnosed as an incidental finding. ( 30168176 )
2018
10
Poland syndrome accompanied by internal iliac artery supply disruption sequence: a case report. ( 30360754 )
2018
11
Liver exstrophy in a neonate with Poland syndrome. ( 28545812 )
2017
12
Congenital hyperinsulinism and Poland syndrome in association with 10p13-14 duplication. ( 28458900 )
2017
13
Modified Ravitch Procedure for Left Poland Syndrome Combined With Pectus Excavatum. ( 28935331 )
2017
14
Congenital Malformations of the Reproductive Tract in a Patient with Poland Syndrome: Is There a Connection? ( 29234256 )
2017
15
Poland Syndrome with Ipsilateral Hypoplasia of Gluteal Muscles and Contralateral Hidradenitis Suppurativa. ( 29657625 )
2017
16
Poland syndrome: a case report. ( 28775114 )
2017
17
Body Image Disorders and Surgical Timing in Patients Affected by Poland Syndrome: Data Analysis of 58 Case Studies. ( 27018681 )
2016
18
Bipolar Latissimus Dorsi Transfer through a Single Incision: First Key-Step in Poland Syndrome Chest Deformity. ( 27622115 )
2016
19
Assessment of copy number variations in 120 patients with Poland syndrome. ( 27884122 )
2016
20
Isolated left pectoralis major muscle hypoplasia in Poland syndrome. ( 26823450 )
2016
21
Proposal of the TBN Classification of Thoracic Anomalies and Treatment Algorithm for Poland Syndrome. ( 27348639 )
2016
22
Unilateral hypertransparency on chest radiograph: the congenital Poland Syndrome. ( 28009035 )
2016
23
Poland Syndrome: Use of Vertical Expandable Prosthetic Titanium Rib System before Walking Age-A Case Report. ( 28824998 )
2016
24
Free gracilis flap for chest wall reconstruction in male patient with Poland syndrome after implant failure. ( 27833290 )
2016
25
Mobius syndrome and poland syndrome presenting together in a single patient. ( 25834693 )
2015
26
Integrated algorithm for reconstruction of complex forms of Poland syndrome: 20-year outcomes. ( 26159469 )
2015
27
Clinical analysis of 113 patients with Poland syndrome. ( 25633462 )
2015
28
Previous Information About Poland Syndrome Should Be Reviewed. ( 26522562 )
2015
29
eComment. Could this be a first depiction of Poland syndrome? ( 25791966 )
2015
30
SPINAL MUSCULAR ATROPHY TYPE 1 AND POLAND SYNDROME: A NOVEL ASSOCIATION IN A MEXICAN FEMALE INFANT. ( 26625666 )
2015
31
Poland syndrome involving the left hemithorax with dextrocardia and herniation of the spleen. ( 24567179 )
2014
32
Poland syndrome. ( 24959021 )
2014
33
Clinical application of Nuss procedure for chest wall deformity in Poland syndrome. ( 26336460 )
2014
34
Bipolar Latissimus Dorsi Transfer for Restoration of Pectoralis Major Function in Poland Syndrome. ( 25046677 )
2014
35
Poland syndrome coexisting with blaschkolinear congenital melanocytic nevi. ( 25007065 )
2014
36
Customized Titanium Implant for Chest Wall Reconstruction in Complex Poland Syndrome. ( 25243105 )
2014
37
De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome. ( 24885342 )
2014
38
Comments on the article "Clinical application of Nuss procedure for chest wall deformity in Poland syndrome". ( 26336461 )
2014
39
Hybrid procedure for Poland syndrome associated with a Gerbode-type defect. ( 24854181 )
2014
40
Poland syndrome: an algorithm to select the appropriate chest wall surgical reconstructive treatment. ( 25074240 )
2014
41
Articulated endoscopic linear cutter stapler facilitates minimal access harvest of the latissimus dorsi muscle flap for chest wall reconstruction in Poland syndrome. ( 25347672 )
2014
42
Laparoscopically harvested omental flap for breast reconstruction in Poland syndrome. ( 23972535 )
2013
43
Poland syndrome: from embryological basis to plastic surgery. ( 23420344 )
2013
44
A rare association of pulmonary hypertension and dextrocardia with Poland syndrome. ( 24054492 )
2013
45
A unique case of right-sided Poland syndrome with true dextrocardia and total situs inversus. ( 23011746 )
2013
46
Optic Disc Dysplasia in Poland Syndrome. ( 23647425 )
2013
47
Chest wall reconstruction with methacrylate prosthesis in Poland syndrome. ( 23453291 )
2013
48
A case of spontaneous chylous pericardial effusion in Poland syndrome. ( 23918317 )
2013
49
Autologous Reconstruction of a Complex Form of Poland Syndrome Using 2 Abdominal Perforator Free Flaps. ( 24322640 )
2013
50
Poland syndrome a rare congenital anomaly. ( 24339551 )
2013

Variations for Poland Syndrome

Copy number variations for Poland Syndrome from CNVD:

7
# CNVD ID Chromosom 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 embryonic limb morphogenesis GO:0030326 9.32 LRP4 NOTCH1
2 embryonic hindlimb morphogenesis GO:0035116 9.26 ALX3 NOTCH1
3 negative regulation of ossification GO:0030279 9.16 LRP4 NOTCH1
4 lipid catabolic process GO:0016042 9.13 HRASLS2 PLA2G16 RARRES3
5 phosphatidylethanolamine acyl-chain remodeling GO:0036152 8.8 HRASLS2 PLA2G16 RARRES3

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 8.96 PLA2G16 RARRES3
2 transferase activity, transferring acyl groups GO:0016746 8.92 HRASLS2 HRASLS5 PLA2G16 RARRES3

Sources for Poland Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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