MCID: PLN006
MIFTS: 50

Poland Syndrome

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

Aliases & Classifications for Poland Syndrome

MalaCards integrated aliases for Poland Syndrome:

Name: Poland Syndrome 53 12 72 49 24 55 41 14 69
Poland Sequence 53 49 24 55
Poland Anomaly 53 49 24 55
Poland Syndactyly 53 49 24
Poland's Syndrome 49 24
Unilateral Defect of Pectoralis Muscle and Syndactyly of the Hand 49
Unilateral Defect of Pectoralis Major and Syndactyly of the Hand 24
Poland's Syndactyly 12
Poland's Anomaly 24

Characteristics:

Orphanet epidemiological data:

55
poland syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

53
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:



External Ids:

OMIM 53 173800
Disease Ontology 12 DOID:12961
ICD10 32 Q79.8
MeSH 41 D011045
NCIt 46 C85017
SNOMED-CT 64 205524002 38371006
Orphanet 55 ORPHA2911
MESH via Orphanet 42 D011045
UMLS via Orphanet 70 C0032357
ICD10 via Orphanet 33 Q79.8
MedGen 39 C0032357
UMLS 69 C0032357

Summaries for Poland Syndrome

NIH Rare Diseases : 49 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. Last updated: 10/5/2016

MalaCards based summary : Poland Syndrome, also known as poland sequence, is related to moebius syndrome and webster deming syndrome, and has symptoms including short neck, finger syndactyly and scoliosis. An important gene associated with Poland Syndrome is ALX3 (ALX Homeobox 3), and among its related pathways/superpathways are Acyl chain remodelling of PE and Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5). Affiliated tissues include breast, bone and liver, and related phenotypes are cellular and craniofacial

OMIM : 53 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)

Genetics Home Reference : 24 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.

Wikipedia : 72 Poland syndrome, named after British surgeon Alfred Poland, is a rare birth defect characterized by... 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 67)
# Related Disease Score Top Affiliating Genes
1 moebius syndrome 30.0 REV3L TUBB3
2 webster deming syndrome 11.2
3 acro-pectoro-renal field defect 11.0
4 breasts and/or nipples, aplasia or hypoplasia of, 1 10.9
5 breasts and/or nipples, aplasia or hypoplasia of, 2 10.9
6 skin tag 10.5 ALX3 HOXA2
7 acute interstitial pneumonia 10.5 SFTPA1 SFTPA2
8 splenic artery aneurysm 10.4 SFTPA1 SFTPA2
9 thymus adenocarcinoma 10.4 SFTPA1 SFTPA2
10 marcus gunn phenomenon 10.4 CHN1 TUBB3
11 hemifacial microsomia 10.4 ALX3 HOXA2
12 scleral staphyloma 10.3 NF1 PAX6
13 pathologic nystagmus 10.3 PAX6 TUBB3
14 lung sarcoma 10.3 NF1 SFTPA1 SFTPA2
15 exotropia 10.2 CHN1 TUBB3
16 congenital ptosis 10.2 CHN1 PAX6 TUBB3
17 hypotropia 10.2 CHN1 NF1 TUBB3
18 esotropia 10.2 CHN1 TUBB3
19 facial paralysis 10.1 HOXA2 TUBB3
20 tolosa-hunt syndrome 10.1 NF1 PRTN3
21 accommodative esotropia 10.1 CHN1 PLA2G16
22 granulomatous gastritis 10.1 NOTCH1 PRTN3
23 dextrocardia 10.0
24 ocular motility disease 10.0 CHN1 PLA2G16 TUBB3
25 cranial nerve disease 10.0 CHN1 PLA2G16 TUBB3
26 strabismus 9.9 CHN1 PLA2G16 TUBB3
27 ectropion 9.9 NF1 PAX6
28 frontonasal dysplasia 1 9.8
29 breast reconstruction 9.7
30 adams-oliver syndrome 1 9.7
31 oliver syndrome 9.7
32 adams-oliver syndrome 9.7
33 muscular atrophy 9.6
34 myopathy 9.5
35 coloboma of macula 9.5
36 lipomatosis, multiple 9.5
37 pectus excavatum 9.5
38 pernicious anemia 9.5
39 renal hypodysplasia/aplasia 1 9.5
40 neuroblastoma 9.5
41 aging 9.5
42 transsexuality 9.5
43 hyperinsulinemic hypoglycemia, familial, 3 9.5
44 hyperinsulinemic hypoglycemia, familial, 5 9.5
45 hyperinsulinemic hypoglycemia, familial, 4 9.5
46 episodic pain syndrome, familial, 1 9.5
47 pulmonary hypertension 9.5
48 hemangioma 9.5
49 leukemia 9.5
50 spinal muscular atrophy 9.5

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:

53
Chest RibsSternum 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:

55 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 55 31 occasional (7.5%) Occasional (29-5%) HP:0000470
2 finger syndactyly 55 31 frequent (33%) Frequent (79-30%) HP:0006101
3 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
4 abnormality of the ulna 55 31 occasional (7.5%) Occasional (29-5%) HP:0002997
5 microcephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000252
6 cone-shaped epiphysis 55 31 occasional (7.5%) Occasional (29-5%) HP:0010579
7 reduced bone mineral density 55 31 occasional (7.5%) Occasional (29-5%) HP:0004349
8 aplasia/hypoplasia of the nipples 55 31 hallmark (90%) Very frequent (99-80%) HP:0006709
9 low posterior hairline 55 31 occasional (7.5%) Occasional (29-5%) HP:0002162
10 abnormal dermatoglyphics 55 31 occasional (7.5%) Occasional (29-5%) HP:0007477
11 renal hypoplasia/aplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0008678
12 small hand 55 31 frequent (33%) Frequent (79-30%) HP:0200055
13 split hand 55 31 frequent (33%) Frequent (79-30%) HP:0001171
14 acute leukemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002488
15 hemivertebrae 55 31 occasional (7.5%) Occasional (29-5%) HP:0002937
16 abnormality of the liver 55 31 occasional (7.5%) Occasional (29-5%) HP:0001392
17 neoplasm of the breast 55 31 occasional (7.5%) Occasional (29-5%) HP:0100013
18 dextrocardia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001651
19 congenital diaphragmatic hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000776
20 aplasia/hypoplasia of the thumb 55 31 occasional (7.5%) Occasional (29-5%) HP:0009601
21 abnormality of the lower limb 55 31 occasional (7.5%) Occasional (29-5%) HP:0002814
22 absent hand 55 31 occasional (7.5%) Occasional (29-5%) HP:0004050
23 asymmetry of the thorax 55 31 hallmark (90%) Very frequent (99-80%) HP:0001555
24 retinal hamartoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0009594
25 aplasia/hypoplasia of the breasts 55 31 hallmark (90%) Very frequent (99-80%) HP:0010311
26 abnormality of the humerus 55 31 occasional (7.5%) Occasional (29-5%) HP:0003063
27 short ribs 55 31 occasional (7.5%) Occasional (29-5%) HP:0000773
28 lack of subcutaneous fatty tissue 55 31 hallmark (90%) Very frequent (99-80%) HP:0007519
29 unilateral brachydactyly 55 31 frequent (33%) Frequent (79-30%) HP:0006008
30 finger symphalangism 55 31 frequent (33%) Frequent (79-30%) HP:0009700
31 aplasia/hypoplasia of the sternum 55 31 occasional (7.5%) Occasional (29-5%) HP:0006714
32 sprengel anomaly 31 HP:0000912
33 abnormality of the ribs 55 Occasional (29-5%)
34 abnormality of the hand 55 Frequent (79-30%)
35 rib fusion 31 HP:0000902
36 abnormality of the sternum 55 Occasional (29-5%)
37 syndactyly 31 HP:0001159
38 abnormality of the breast 31 HP:0000769
39 absence of pectoralis minor muscle 31 HP:0005255
40 unilateral oligodactyly 31 HP:0006230
41 hypoplasia of latissimus dorsi muscle 31 HP:0009026
42 hypoplasia of serratus anterior muscle 31 HP:0009011
43 hypoplasia of deltoid muscle 31 HP:0030241
44 unilateral absence of pectoralis major muscle 31 HP:0005256
45 unilateral hypoplasia of pectoralis major muscle 31 HP:0011959

MGI Mouse Phenotypes related to Poland Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10 HOXA2 LRP4 NF1 NOTCH1 PAX6 PLA2G16
2 craniofacial MP:0005382 9.7 ALX3 HOXA2 LRP4 NF1 NOTCH1 PAX6
3 embryo MP:0005380 9.56 ALX3 HOXA2 LRP4 NF1 NOTCH1 PAX6
4 respiratory system MP:0005388 9.23 ALX3 HOXA2 LRP4 NF1 NOTCH1 PAX6

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:

38
Breast, Bone, Liver, Spleen, Retina

Publications for Poland Syndrome

Articles related to Poland Syndrome:

(show top 50) (show all 138)
# Title Authors Year
1
Controversies in Poland Syndrome: Alternative Diagnoses in Patients With Congenital Pectoral Muscle Deficiency. ( 29033291 )
2018
2
Poland Syndrome. ( 29298145 )
2018
3
Modified Ravitch Procedure for Left Poland Syndrome Combined With Pectus Excavatum. ( 28935331 )
2017
4
Congenital hyperinsulinism and Poland syndrome in association with 10p13-14 duplication. ( 28458900 )
2017
5
Congenital Malformations of the Reproductive Tract in a Patient with Poland Syndrome: Is There a Connection? ( 29234256 )
2017
6
Liver exstrophy in a neonate with Poland syndrome. ( 28545812 )
2017
7
Poland syndrome: a case report. ( 28775114 )
2017
8
Bipolar Latissimus Dorsi Transfer through a Single Incision: First Key-Step in Poland Syndrome Chest Deformity. ( 27622115 )
2016
9
Assessment of copy number variations in 120 patients with Poland syndrome. ( 27884122 )
2016
10
Proposal of the TBN Classification of Thoracic Anomalies and Treatment Algorithm for Poland Syndrome. ( 27348639 )
2016
11
Body Image Disorders and Surgical Timing in Patients Affected by Poland Syndrome: Data Analysis of 58 Case Studies. ( 27018681 )
2016
12
Isolated left pectoralis major muscle hypoplasia in Poland syndrome. ( 26823450 )
2016
13
Unilateral hypertransparency on chest radiograph: the congenital Poland Syndrome. ( 28009035 )
2016
14
Poland Syndrome: Use of Vertical Expandable Prosthetic Titanium Rib System before Walking Age-A Case Report. ( 28824998 )
2016
15
Free gracilis flap for chest wall reconstruction in male patient with Poland syndrome after implant failure. ( 27833290 )
2016
16
SPINAL MUSCULAR ATROPHY TYPE 1 AND POLAND SYNDROME: A NOVEL ASSOCIATION IN A MEXICAN FEMALE INFANT. ( 26625666 )
2015
17
eComment. Could this be a first depiction of Poland syndrome? ( 25791966 )
2015
18
Mobius syndrome and poland syndrome presenting together in a single patient. ( 25834693 )
2015
19
Clinical analysis of 113 patients with Poland syndrome. ( 25633462 )
2015
20
Integrated algorithm for reconstruction of complex forms of Poland syndrome: 20-year outcomes. ( 26159469 )
2015
21
Previous Information About Poland Syndrome Should Be Reviewed. ( 26522562 )
2015
22
Clinical application of Nuss procedure for chest wall deformity in Poland syndrome. ( 26336460 )
2014
23
Poland syndrome. ( 24959021 )
2014
24
Articulated endoscopic linear cutter stapler facilitates minimal access harvest of the latissimus dorsi muscle flap for chest wall reconstruction in poland syndrome. ( 25347672 )
2014
25
Poland syndrome: an algorithm to select the appropriate chest wall surgical reconstructive treatment. ( 25074240 )
2014
26
Poland syndrome coexisting with blaschkolinear congenital melanocytic nevi. ( 25007065 )
2014
27
Customized Titanium Implant for Chest Wall Reconstruction in Complex Poland Syndrome. ( 25243105 )
2014
28
Hybrid procedure for Poland syndrome associated with a Gerbode-type defect. ( 24854181 )
2014
29
De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome. ( 24885342 )
2014
30
Bipolar Latissimus Dorsi Transfer for Restoration of Pectoralis Major Function in Poland Syndrome. ( 25046677 )
2014
31
Poland syndrome involving the left hemithorax with dextrocardia and herniation of the spleen. ( 24567179 )
2014
32
Poland syndrome a rare congenital anomaly. ( 24339551 )
2013
33
A hyperlucent hemithorax on a chest radiograph: Poland syndrome as an uncommon extrapulmonic source. ( 23841253 )
2013
34
A unique case of right-sided Poland syndrome with true dextrocardia and total situs inversus. ( 23011746 )
2013
35
A case of spontaneous chylous pericardial effusion in Poland syndrome. ( 23918317 )
2013
36
Autologous Reconstruction of a Complex Form of Poland Syndrome Using 2 Abdominal Perforator Free Flaps. ( 24322640 )
2013
37
Optic Disc Dysplasia in Poland Syndrome. ( 23647425 )
2013
38
Chest wall reconstruction with methacrylate prosthesis in Poland syndrome. ( 23453291 )
2013
39
Laparoscopically harvested omental flap for breast reconstruction in Poland syndrome. ( 23972535 )
2013
40
Poland syndrome: from embryological basis to plastic surgery. ( 23420344 )
2013
41
A rare association of pulmonary hypertension and dextrocardia with Poland syndrome. ( 24054492 )
2013
42
Multimodality imaging of Poland syndrome with dextrocardia and limb anomalies. ( 22785521 )
2012
43
Hand and upper limb anomalies in Poland syndrome: a new proposal of classification. ( 22955538 )
2012
44
Poland syndrome with a rare association. ( 23547414 )
2012
45
Poland syndrome and breast tumor: a case report and review of the literature. ( 22231415 )
2012
46
Poland syndrome associated with pernicious anemia and gastric dysplasia. ( 24385744 )
2012
47
Rare combination of dextrocardia with right-sided Poland syndrome. ( 23006716 )
2012
48
Poland syndrome. ( 23409420 )
2012
49
Poland syndrome with extracorporeal intercostal liver herniation and thoracic myelomeningocele. ( 22244430 )
2012
50
Breast and chest wall reconstruction with the transverse musculocutaneous gracilis flap in Poland syndrome. ( 23018691 )
2012

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

Cellular components related to Poland Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lamellar body GO:0042599 8.62 SFTPA1 SFTPA2

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

# Name GO ID Score Top Affiliating Genes
1 lipid catabolic process GO:0016042 9.5 HRASLS2 PLA2G16 RARRES3
2 negative regulation of ossification GO:0030279 9.4 LRP4 NOTCH1
3 positive regulation of neuroblast proliferation GO:0002052 9.37 NOTCH1 PAX6
4 negative regulation of neurogenesis GO:0050768 9.26 NOTCH1 PAX6
5 negative regulation of oligodendrocyte differentiation GO:0048715 9.16 NF1 NOTCH1
6 astrocyte differentiation GO:0048708 8.96 NOTCH1 PAX6
7 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 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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