MCID: PLN006
MIFTS: 41

Poland Syndrome

Categories: Oral diseases, Rare diseases

Aliases & Classifications for Poland Syndrome

MalaCards integrated aliases for Poland Syndrome:

Name: Poland Syndrome 58 12 77 54 26 45 15 74
Poland Syndactyly 58 54 26
Poland Sequence 58 54 26
Poland Anomaly 58 54 26
Poland's Syndrome 54 26
Unilateral Defect of Pectoralis Muscle and Syndactyly of the Hand 54
Unilateral Defect of Pectoralis Major and Syndactyly of the Hand 26
Poland's Syndactyly 12
Poland's Anomaly 26

Characteristics:

OMIM:

58
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:

33
poland syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Poland Syndrome

NIH Rare Diseases : 54 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). Affiliated tissues include breast, liver and bone, and related phenotypes are aplasia/hypoplasia of the nipples and asymmetry of the thorax

Genetics Home Reference : 26 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 : 58 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 : 77 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 74)
# 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 bilateral breast cancer 10.0
7 breast reconstruction 9.9
8 pneumothorax, primary spontaneous 9.9
9 neural tube defects 9.9
10 ichthyosis, x-linked 9.9
11 premature ovarian failure 1 9.9
12 wilms tumor 5 9.9
13 psoriasis 7 9.9
14 psoriasis 11 9.9
15 psoriasis 13 9.9
16 wilms tumor 6 9.9
17 fibroma 9.9
18 lymphoma 9.9
19 renal hypertension 9.9
20 gynecomastia 9.9
21 ichthyosis 9.9
22 atrial heart septal defect 9.9
23 leiomyosarcoma 9.9
24 retinal vascular disease 9.9
25 psoriasis 9.9
26 neurofibroma 9.9
27 growth hormone deficiency 9.9
28 sulfite oxidase deficiency due to molybdenum cofactor deficiency 9.9
29 frontonasal dysplasia 1 9.9
30 primary microcephaly 9.9
31 microcephaly 9.9
32 oliver syndrome 9.8
33 adams-oliver syndrome 9.8
34 breast cancer 9.8
35 muscular atrophy 9.8
36 diaphragmatic hernia, congenital 9.7
37 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.7
38 klippel-feil syndrome 9.7
39 dysostosis 9.7
40 hydranencephaly 9.7
41 carey-fineman-ziter syndrome 9.7
42 myopathy, congenital 9.7
43 myopathy 9.7
44 hemifacial atrophy, progressive 9.6
45 moebius syndrome 9.6
46 pectus excavatum 9.6
47 pernicious anemia 9.6
48 renal hypodysplasia/aplasia 1 9.6
49 neuroblastoma 9.6
50 hyperinsulinemic hypoglycemia, familial, 2 9.6

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:

33 (show top 50) (show all 59)
# Description HPO Frequency HPO Source Accession
1 aplasia/hypoplasia of the nipples 33 hallmark (90%) HP:0006709
2 asymmetry of the thorax 33 hallmark (90%) HP:0001555
3 aplasia of the pectoralis major muscle 33 hallmark (90%) HP:0009751
4 aplasia/hypoplasia of the breasts 33 hallmark (90%) HP:0010311
5 lack of subcutaneous fatty tissue 33 hallmark (90%) HP:0007519
6 small hand 33 frequent (33%) HP:0200055
7 renal hypoplasia 33 frequent (33%) HP:0000089
8 unilateral brachydactyly 33 frequent (33%) HP:0006008
9 finger symphalangism 33 frequent (33%) HP:0009700
10 short neck 33 occasional (7.5%) HP:0000470
11 finger syndactyly 33 occasional (7.5%) HP:0006101
12 diabetes mellitus 33 occasional (7.5%) HP:0000819
13 scoliosis 33 occasional (7.5%) HP:0002650
14 kyphosis 33 occasional (7.5%) HP:0002808
15 pectus carinatum 33 occasional (7.5%) HP:0000768
16 abnormality of the ulna 33 occasional (7.5%) HP:0002997
17 microcephaly 33 occasional (7.5%) HP:0000252
18 cone-shaped epiphysis 33 occasional (7.5%) HP:0010579
19 reduced bone mineral density 33 occasional (7.5%) HP:0004349
20 cryptorchidism 33 occasional (7.5%) HP:0000028
21 low posterior hairline 33 occasional (7.5%) HP:0002162
22 abnormal dermatoglyphics 33 occasional (7.5%) HP:0007477
23 myopia 33 occasional (7.5%) HP:0000545
24 atrial septal defect 33 occasional (7.5%) HP:0001631
25 sprengel anomaly 33 occasional (7.5%) HP:0000912
26 hypospadias 33 occasional (7.5%) HP:0000047
27 vesicoureteral reflux 33 occasional (7.5%) HP:0000076
28 hand polydactyly 33 occasional (7.5%) HP:0001161
29 split hand 33 occasional (7.5%) HP:0001171
30 acute leukemia 33 occasional (7.5%) HP:0002488
31 spina bifida occulta 33 occasional (7.5%) HP:0003298
32 hemivertebrae 33 occasional (7.5%) HP:0002937
33 missing ribs 33 occasional (7.5%) HP:0000921
34 abnormality of the liver 33 occasional (7.5%) HP:0001392
35 neoplasm of the breast 33 occasional (7.5%) HP:0100013
36 encephalocele 33 occasional (7.5%) HP:0002084
37 dextrocardia 33 occasional (7.5%) HP:0001651
38 congenital diaphragmatic hernia 33 occasional (7.5%) HP:0000776
39 aplasia/hypoplasia of the thumb 33 occasional (7.5%) HP:0009601
40 abnormality of the lower limb 33 occasional (7.5%) HP:0002814
41 absent hand 33 occasional (7.5%) HP:0004050
42 aplasia/hypoplasia of the radius 33 occasional (7.5%) HP:0006501
43 retinal hamartoma 33 occasional (7.5%) HP:0009594
44 abnormality of the humerus 33 occasional (7.5%) HP:0003063
45 short ribs 33 occasional (7.5%) HP:0000773
46 ureterocele 33 occasional (7.5%) HP:0000070
47 duplicated collecting system 33 occasional (7.5%) HP:0000081
48 abnormality of the outer ear 33 occasional (7.5%) HP:0000356
49 aplasia/hypoplasia of the sternum 33 occasional (7.5%) HP:0006714
50 rib fusion 33 HP:0000902

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
Breast, Liver, Bone, Skin, Spleen, Retina

Publications for Poland Syndrome

Articles related to Poland Syndrome:

(show top 50) (show all 156)
# Title Authors Year
1
Breast Reconstruction in Poland Syndrome Patients with Latissimus Dorsi Myo Flap and Implant: An Efficient Endoscopic Approach Using Single Transverse Axillary Incision. ( 30877446 )
2019
2
Comparison of objective and subjective evaluation of breast symmetrization results in patients with Poland syndrome. ( 29513249 )
2018
3
Anaesthesia for chest wall reconstruction in a patient with Poland syndrome: CARE-compliant case report and literature review. ( 29793431 )
2018
4
Poland Syndrome. ( 29298145 )
2018
5
Controversies in Poland Syndrome: Alternative Diagnoses in Patients With Congenital Pectoral Muscle Deficiency. ( 29033291 )
2018
6
Poland syndrome and pneumothorax: the compelling evidence of an association. ( 30292324 )
2018
7
Successful use of adipose-derived mesenchymal stem cells to correct a male breast affected by Poland Syndrome: a case report. ( 30002805 )
2018
8
Correcting Poland Syndrome with a Custom-Made Silicone Implant: Contribution of Three-Dimensional Computer-Aided Design Reconstruction. ( 30045173 )
2018
9
Poland syndrome: A proposed classification system and perspectives on diagnosis and treatment. ( 30078491 )
2018
10
The value of full-body skin examination: Poland syndrome diagnosed as an incidental finding. ( 30168176 )
2018
11
Poland syndrome accompanied by internal iliac artery supply disruption sequence: a case report. ( 30360754 )
2018
12
Liver exstrophy in a neonate with Poland syndrome. ( 28545812 )
2017
13
Congenital hyperinsulinism and Poland syndrome in association with 10p13-14 duplication. ( 28458900 )
2017
14
Modified Ravitch Procedure for Left Poland Syndrome Combined With Pectus Excavatum. ( 28935331 )
2017
15
Congenital Malformations of the Reproductive Tract in a Patient with Poland Syndrome: Is There a Connection? ( 29234256 )
2017
16
Poland Syndrome with Ipsilateral Hypoplasia of Gluteal Muscles and Contralateral Hidradenitis Suppurativa. ( 29657625 )
2017
17
Poland syndrome: a case report. ( 28775114 )
2017
18
Body Image Disorders and Surgical Timing in Patients Affected by Poland Syndrome: Data Analysis of 58 Case Studies. ( 27018681 )
2016
19
Bipolar Latissimus Dorsi Transfer through a Single Incision: First Key-Step in Poland Syndrome Chest Deformity. ( 27622115 )
2016
20
Assessment of copy number variations in 120 patients with Poland syndrome. ( 27884122 )
2016
21
Isolated left pectoralis major muscle hypoplasia in Poland syndrome. ( 26823450 )
2016
22
Proposal of the TBN Classification of Thoracic Anomalies and Treatment Algorithm for Poland Syndrome. ( 27348639 )
2016
23
Unilateral hypertransparency on chest radiograph: the congenital Poland Syndrome. ( 28009035 )
2016
24
Poland Syndrome: Use of Vertical Expandable Prosthetic Titanium Rib System before Walking Age-A Case Report. ( 28824998 )
2016
25
Free gracilis flap for chest wall reconstruction in male patient with Poland syndrome after implant failure. ( 27833290 )
2016
26
Mobius syndrome and poland syndrome presenting together in a single patient. ( 25834693 )
2015
27
Integrated algorithm for reconstruction of complex forms of Poland syndrome: 20-year outcomes. ( 26159469 )
2015
28
Clinical analysis of 113 patients with Poland syndrome. ( 25633462 )
2015
29
Previous Information About Poland Syndrome Should Be Reviewed. ( 26522562 )
2015
30
eComment. Could this be a first depiction of Poland syndrome? ( 25791966 )
2015
31
SPINAL MUSCULAR ATROPHY TYPE 1 AND POLAND SYNDROME: A NOVEL ASSOCIATION IN A MEXICAN FEMALE INFANT. ( 26625666 )
2015
32
Poland syndrome involving the left hemithorax with dextrocardia and herniation of the spleen. ( 24567179 )
2014
33
Poland syndrome. ( 24959021 )
2014
34
Clinical application of Nuss procedure for chest wall deformity in Poland syndrome. ( 26336460 )
2014
35
Bipolar Latissimus Dorsi Transfer for Restoration of Pectoralis Major Function in Poland Syndrome. ( 25046677 )
2014
36
Poland syndrome coexisting with blaschkolinear congenital melanocytic nevi. ( 25007065 )
2014
37
Customized Titanium Implant for Chest Wall Reconstruction in Complex Poland Syndrome. ( 25243105 )
2014
38
De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome. ( 24885342 )
2014
39
Comments on the article "Clinical application of Nuss procedure for chest wall deformity in Poland syndrome". ( 26336461 )
2014
40
Hybrid procedure for Poland syndrome associated with a Gerbode-type defect. ( 24854181 )
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
Poland syndrome: an algorithm to select the appropriate chest wall surgical reconstructive treatment. ( 25074240 )
2014
43
Laparoscopically harvested omental flap for breast reconstruction in Poland syndrome. ( 23972535 )
2013
44
Poland syndrome: from embryological basis to plastic surgery. ( 23420344 )
2013
45
A rare association of pulmonary hypertension and dextrocardia with Poland syndrome. ( 24054492 )
2013
46
A unique case of right-sided Poland syndrome with true dextrocardia and total situs inversus. ( 23011746 )
2013
47
Optic Disc Dysplasia in Poland Syndrome. ( 23647425 )
2013
48
Chest wall reconstruction with methacrylate prosthesis in Poland syndrome. ( 23453291 )
2013
49
A case of spontaneous chylous pericardial effusion in Poland syndrome. ( 23918317 )
2013
50
Autologous Reconstruction of a Complex Form of Poland Syndrome Using 2 Abdominal Perforator Free Flaps. ( 24322640 )
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 hindlimb morphogenesis GO:0035116 8.62 ALX3 NOTCH1

Sources for Poland Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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