MCID: PLN006
MIFTS: 41

Poland Syndrome malady

Rare diseases, Reproductive diseases, Bone diseases, Fetal diseases, Oral diseases categories
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Summaries for Poland Syndrome

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Genetics Home Reference:21 Poland syndrome is a disorder in which affected individuals are born with missing or abnormal muscles on one side of the chest wall. Most individuals with Poland syndrome also have abnormalities of the hand, which often involve shortened fingers, partial fusion of the fingers, or both. The hand abnormalities usually affect the same (ipsilateral) side of the body as those of the chest. Poland syndrome affects the right side of the body more often than the left side.

MalaCards based summary: Poland Syndrome, also known as poland anomaly, is related to dextrocardia and adams oliver syndrome, and has symptoms including asymmetric rib cage/thorax, breast tissue/mammary gland absence/aplasia and hypoplastic/absent nipples. Affiliated tissues include breast, bone and liver.

NIH Rare Diseases:42 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 be right sided and is more common in boys than girls. last updated: 6/25/2011

Wikipedia:65 Poland syndrome (also Poland\'s syndrome, Poland\'s syndactyly, Poland sequence, and Poland\'s anomaly)... more...

Description from OMIM:46 173800

Aliases & Classifications for Poland Syndrome

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 48Orphanet, 46OMIM, 62UMLS, 39NCIt, 57SNOMED-CT, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Poland Syndrome, Aliases & Descriptions:

Name: Poland Syndrome 8 42 21 48 46 62
Poland Anomaly 8 42 21 48
Poland Syndactyly 42 21 62
Poland Sequence 42 21 48
Poland's Syndrome 42 21
 
Unilateral Defect of Pectoralis Muscle and Syndactyly of the Hand 42
Unilateral Defect of Pectoralis Major and Syndactyly of the Hand 21
Poland's Syndactyly 8
Poland's Anomaly 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
poland syndrome:
Inheritance: Autosomal dominant,Sporadic; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


External Ids:

Disease Ontology8 DOID:12961
NCIt39 C85017
MeSH34 D011045
OMIM46 173800
SNOMED-CT57 38371006, 205524002
MESH via Orphanet35 D011045
ICD10 via Orphanet26 Q79.8
UMLS via Orphanet63 C0032357

Related Diseases for Poland Syndrome

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



Diseases related to poland syndrome

Symptoms for Poland Syndrome

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Symptoms by clinical synopsis from OMIM:

173800

Clinical features from OMIM:

173800

Symptoms:

48 (show all 33)
  • asymmetric rib cage/thorax
  • breast tissue/mammary gland absence/aplasia
  • hypoplastic/absent nipples
  • absent pectoral muscles
  • anomalies of skin, subcutaneous tissue and mucosae
  • anomalies of hands
  • short hand/brachydactyly
  • syndactyly of fingers/interdigital palm
  • oligodactyly/ectrodactyly of fingers
  • microcephaly
  • retinal hamartoma
  • short neck
  • sternal/sternum anomalies
  • anomalies of the ribs
  • anomalies of spine, vertebrae and pelvis
  • scoliosis
  • humerus anomaly/absence/agenesis/hypoplasia/congenital humerus varus
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray
  • hand agenesis/absence
  • abnormal dermatoglyphics
  • thumb hypoplasia/aplasia/absence
  • lower limb segmental anomalies
  • low hair line (back)
  • structural anomalies of the liver and the biliary tract
  • diaphragmatic hernia/defect/agenesis
  • dextrocardia/abnormal heart position/cardiac heterotaxia/situs inversus
  • agenesis/hypoplasia/aplasia of kidneys
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • cone epiphyses/epiphysis
  • breast neoplasm/tumor/carcinoma/cancer
  • acute leukemia
  • autosomal dominant inheritance

HPO human phenotypes related to Poland Syndrome:

(show all 45)
id Description Frequency HPO Source Accession
1 asymmetry of the thorax hallmark (90%) HP:0001555
2 aplasia/hypoplasia of the nipples hallmark (90%) HP:0006709
3 aplasia of the pectoralis major muscle hallmark (90%) HP:0009751
4 breast aplasia hallmark (90%) HP:0100783
5 brachydactyly syndrome typical (50%) HP:0001156
6 split hand typical (50%) HP:0001171
7 finger syndactyly typical (50%) HP:0006101
8 microcephaly occasional (7.5%) HP:0000252
9 short neck occasional (7.5%) HP:0000470
10 abnormality of the sternum occasional (7.5%) HP:0000766
11 abnormality of the ribs occasional (7.5%) HP:0000772
12 congenital diaphragmatic hernia occasional (7.5%) HP:0000776
13 abnormality of the liver occasional (7.5%) HP:0001392
14 situs inversus totalis occasional (7.5%) HP:0001696
15 low posterior hairline occasional (7.5%) HP:0002162
16 acute leukemia occasional (7.5%) HP:0002488
17 scoliosis occasional (7.5%) HP:0002650
18 abnormality of the lower limb occasional (7.5%) HP:0002814
19 abnormality of the ulna occasional (7.5%) HP:0002997
20 abnormality of the humerus occasional (7.5%) HP:0003063
21 absent hand occasional (7.5%) HP:0004050
22 reduced bone mineral density occasional (7.5%) HP:0004349
23 aplasia/hypoplasia of the radius occasional (7.5%) HP:0006501
24 abnormal dermatoglyphics occasional (7.5%) HP:0007477
25 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
26 retinal hamartoma occasional (7.5%) HP:0009594
27 aplasia/hypoplasia of the thumb occasional (7.5%) HP:0009601
28 cone-shaped epiphysis occasional (7.5%) HP:0010579
29 neoplasm of the breast occasional (7.5%) HP:0100013
30 autosomal dominant inheritance HP:0000006
31 abnormality of the breast HP:0000769
32 short ribs HP:0000773
33 rib fusion HP:0000902
34 sprengel anomaly HP:0000912
35 syndactyly HP:0001159
36 dextrocardia HP:0001651
37 hemivertebrae HP:0002937
38 absence of pectoralis minor muscle HP:0005255
39 unilateral absence of pectoralis major muscle HP:0005256
40 unilateral brachydactyly HP:0006008
41 unilateral oligodactyly HP:0006230
42 hypoplasia of serratus anterior muscle HP:0009011
43 hypoplasia of latissimus dorsi muscle HP:0009026
44 hypoplasia of deltoid muscle HP:0009044
45 unilateral hypoplasia of pectoralis major muscle HP:0011959

Drugs & Therapeutics for Poland Syndrome

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Drug clinical trials:

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Genetic Tests for Poland Syndrome

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Anatomical Context for Poland Syndrome

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MalaCards organs/tissues related to Poland Syndrome:

32
Breast, Bone, Liver, Heart, Kidney, Skin, Spleen, Retina

Animal Models for Poland Syndrome or affiliated genes

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Publications for Poland Syndrome

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Articles related to Poland Syndrome:

(show top 50)    (show all 116)
idTitleAuthorsYear
1
Poland syndrome: an algorithm to select the appropriate chest wall surgical reconstructive treatment. (25074240)
2014
2
Hybrid procedure for Poland syndrome associated with a Gerbode-type defect. (24854181)
2014
3
Articulated endoscopic linear cutter stapler facilitates minimal access harvest of the latissimus dorsi muscle flap for chest wall reconstruction in poland syndrome. (25347672)
2014
4
Poland syndrome coexisting with blaschkolinear congenital melanocytic nevi. (25007065)
2014
5
Chest wall reconstruction with methacrylate prosthesis in Poland syndrome. (23453291)
2013
6
Poland syndrome: from embryological basis to plastic surgery. (23420344)
2013
7
Poland syndrome a rare congenital anomaly. (24339551)
2013
8
A rare association of pulmonary hypertension and dextrocardia with Poland syndrome. (24054492)
2013
9
Autologous Reconstruction of a Complex Form of Poland Syndrome Using 2 Abdominal Perforator Free Flaps. (24322640)
2013
10
Poland syndrome with a rare association. (23547414)
2012
11
Poland syndrome. (23409420)
2012
12
Scapular winging in Poland syndrome. (21789405)
2011
13
Right-sided chest pain in Poland syndrome. (21959638)
2011
14
First case of Moebius-Poland syndrome in child prenatally exposed to misoprostol. (21420202)
2011
15
Poland syndrome associated with ipsilateral lipoma and dextrocardia. (22115239)
2011
16
Women's quality of life and surgical long-term outcome after breast reconstruction in Poland syndrome patients. (21501086)
2011
17
Poland syndrome. (20454789)
2010
18
Poland syndrome: evaluation and treatment of the chest wall in 63 patients. (20811224)
2010
19
Dextrocardia in patients with Poland syndrome: phenotypic characterization provides insight into the pathogenesis. (19909992)
2010
20
A case of Poland Syndrome associated with dextroposition. (20170539)
2010
21
Dextrocardia associated with left-sided Poland syndrome. (19169181)
2009
22
Unilateral hypoplastic breast in a male-to-female transsexual with Poland syndrome after gender reassignment--reconstructive considerations. (18639510)
2009
23
The carpal bones in Poland syndrome. (19183988)
2009
24
Poland syndrome with bilateral features: case description with review of the literature. (19533787)
2009
25
Titanium mesh prosthesis repair of symptomatic Poland syndrome in a premature infant. (18206489)
2008
26
Autologous rib transplantation and terylene patch for repair of chest wall defect in a girl with Poland syndrome: a case report. (18926229)
2008
27
Moebius-Poland syndrome and hypogonadotropic hypogonadism. (17401577)
2008
28
Complication after breast implantation in Poland syndrome. (19083584)
2008
29
Poland syndrome in a female patient reconstructed by endoscopically assisted technique. (17684839)
2007
30
Individualized implant-based reconstruction of Poland syndrome breast and soft tissue deformities. (17992143)
2007
31
Complete videoendoscopic harvest and transposition of latissimus dorsi muscle for the treatment of Poland syndrome: a first report. (17362186)
2007
32
Poland syndrome (anomaly) with congenital hemangioma: a new association. (16766839)
2006
33
The middle phalanx in Poland syndrome. (15655466)
2005
34
Acquired perforating dermatosis in a patient with Poland syndrome. (14657633)
2003
35
Unilateral absence of the external oblique muscle with hypoplasia of the rectus abdominis muscle in a patient with Poland syndrome. (12447072)
2002
36
Endoscopically assisted reconstruction of male and female poland syndrome. (11932594)
2002
37
A variant of Poland syndrome. (11832606)
2001
38
Anesthesia in Poland syndrome. (10349937)
1999
39
Lower extremity counterpart of the Poland syndrome. (10066030)
1999
40
Anaesthesia in Poland syndrome. (9579270)
1998
41
Neuroblastoma and Poland syndrome in a 15-year-old boy. (9447762)
1997
42
Peroneal muscular atrophy with Poland syndrome. (8042452)
1994
43
Poland syndrome with dextrocardia. (1286890)
1992
44
Poland syndrome and leukaemia. (2820736)
1987
45
Moebius-Poland syndrome. (2997111)
1985
46
Latissimus dorsi myocutaneous flap in Poland syndrome. (7247242)
1981
47
Vascular origin of Poland syndrome? A comparative rheographic study of the vascularisation of the arms in eight patients. (208850)
1978
48
Poland syndrome in British Columbia: incidence and reproductive experience of affected persons. (205132)
1977
49
The Poland syndrome. (209663)
1977
50
The familial occurrence of Poland syndrome. (195646)
1977

Variations for Poland Syndrome

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Expression for genes affiliated with Poland Syndrome

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Search GEO for disease gene expression data for Poland Syndrome.

Pathways for genes affiliated with Poland Syndrome

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Compounds for genes affiliated with Poland Syndrome

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GO Terms for genes affiliated with Poland Syndrome

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Products for genes affiliated with Poland Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Poland Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet