MCID: PLN006
MIFTS: 42

Poland Syndrome malady

Reproductive diseases, Bone diseases, Fetal diseases, Oral diseases categories

Summaries for Poland Syndrome

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Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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: Poland Syndrome, also known as poland anomaly, is related to dextrocardia and breast reconstruction, and has symptoms including breast neoplasm/tumor/carcinoma/cancer, sternal/sternum anomalies and dextrocardia/abnormal heart position/cardiac heterotaxia/situs inversus. An important gene associated with Poland Syndrome is EHD4 (EH-domain containing 4). Affiliated tissues include breast, liver and bone.

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:63 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, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Reproductive diseases, Bone diseases, Oral diseases


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

poland syndrome 8 42 21 48 46 60
poland anomaly 8 42 21 48
poland sequence 42 21 48
poland syndactyly 42 21
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


External Ids:

Disease Ontology8 DOID:12961
MeSH34 D011045
NCIt39 C85017
OMIM46 173800
SNOMED-CT56 205524002, 38371006
MESH via Orphanet35 D011045
ICD10 via Orphanet26 Q79.8
SNOMED-CT via Orphanet57 38371006
UMLS via Orphanet61 C0032357

Related Diseases for Poland Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Poland Syndrome:



Diseases related to poland syndrome

Clinical Features for Poland Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

173800

Clinical synopsis from OMIM:

173800

Symptoms:

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

Drugs & Therapeutics for Poland Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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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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Sources:
32MalaCards
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MalaCards organs/tissues related to Poland Syndrome:

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

Animal Models for Poland Syndrome or affiliated genes

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Publications for Poland Syndrome

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Sources:
50PubMed
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Articles related to Poland Syndrome:

(show top 50)    (show all 128)
idTitleAuthorsYear
1
Poland syndrome: from embryological basis to plastic surgery. (23420344)
2013
2
Poland syndrome a rare congenital anomaly. (24339551)
2013
3
A rare association of pulmonary hypertension and dextrocardia with Poland syndrome. (24054492)
2013
4
A unique case of right-sided Poland syndrome with true dextrocardia and total situs inversus. (23011746)
2013
5
A case of spontaneous chylous pericardial effusion in Poland syndrome. (23918317)
2013
6
Poland syndrome with a rare association. (23547414)
2012
7
Chest wall repair in Poland syndrome: complex single-stage surgery including Vertical Expandable Prosthetic Titanium Rib stabilization--a case report. (22424369)
2012
8
Multimodality imaging of Poland syndrome with dextrocardia and limb anomalies. (22785521)
2012
9
Rare combination of dextrocardia with right-sided Poland syndrome. (23006716)
2012
10
Lower eyelid surgery for lagophthalmos in MAPbius and Poland-MAPbius syndromes. (22134324)
2011
11
Scapular winging in Poland syndrome. (21789405)
2011
12
First case of Moebius-Poland syndrome in child prenatally exposed to misoprostol. (21420202)
2011
13
Poland syndrome associated with ipsilateral lipoma and dextrocardia. (22115239)
2011
14
Women's quality of life and surgical long-term outcome after breast reconstruction in Poland syndrome patients. (21501086)
2011
15
Poland syndrome. (20454789)
2010
16
Poland syndrome: evaluation and treatment of the chest wall in 63 patients. (20811224)
2010
17
A case of Poland Syndrome associated with dextroposition. (20170539)
2010
18
Poland syndrome with dextrocardia: case report. (23457811)
2010
19
Poland syndrome: rare presentation in two cases. (20927162)
2010
20
The carpal bones in Poland syndrome. (19183988)
2009
21
Poland-Mobius syndrome in an infant girl. (19847089)
2009
22
Autologous rib transplantation and terylene patch for repair of chest wall defect in a girl with Poland syndrome: a case report. (18926229)
2008
23
Complication after breast implantation in Poland syndrome. (19083584)
2008
24
Poland syndrome: aesthetic result after late seroma and implant removal without replacement. (19083513)
2008
25
Poland syndrome in a female patient reconstructed by endoscopically assisted technique. (17684839)
2007
26
Cavernous malformation with Poland-MAPbius syndrome. Case illustration. (17644927)
2007
27
Individualized implant-based reconstruction of Poland syndrome breast and soft tissue deformities. (17992143)
2007
28
Poland syndrome associated with an aberrant subclavian artery and vascular abnormalities of the retina in a child exposed to misoprostol during pregnancy. (17393483)
2007
29
Poland syndrome: description of an atypical variant. (15759092)
2005
30
Anaesthetic management of patient with Poland syndrome and rheumatic mitral valve stenosis: a case report. (17762065)
2005
31
Poland syndrome: a contraindication to the use of the internal thoracic artery in coronary artery bypass grafting? (16077438)
2005
32
Ipsilateral foot and contralateral hand anomalies in a patient with Poland-Moebius syndrome. (16053910)
2005
33
Temporary dysplastic hematological features due to iron deficiency in a case of Poland syndrome. (15739626)
2004
34
Unilateral absence of the external oblique muscle with hypoplasia of the rectus abdominis muscle in a patient with Poland syndrome. (12447072)
2002
35
Radiological aspects of the Poland syndrome and implications for treatment: a case study and review. (12172832)
2002
36
Unilateral absence of the trapezius and pectoralis major muscle: a variant of Poland syndrome. (12558116)
2002
37
A variant of Poland syndrome. (11832606)
2001
38
Poland-Moebius syndrome: a case report. (11094187)
2000
39
Poland-MAPbius syndrome and disruption spectrum affecting the face and extremities: a review paper and presentation of five cases. (11059047)
2000
40
Symptomatic macromastia in a patient with Poland syndrome. (10883644)
2000
41
Poland syndrome: a case with a combination of syndromes. (10568126)
1999
42
Breast cancer in Poland syndrome. (10597692)
1999
43
Picture of the month. Unilateral amastia (Poland syndrome). (10591312)
1999
44
Poland-Moebius syndrome in a boy and Poland syndrome in his mother. (1773538)
1991
45
Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome. (2012136)
1991
46
Parry-Romberg syndrome in association with contralateral Poland syndrome. (2154511)
1990
47
Poland-MAPbius syndrome: evaluation by computerized tomography. (2986296)
1985
48
Poland syndrome: a concept of pathogenesis based on limb bud embryology. (200291)
1977
49
A variant of Poland syndrome: report of case. (181952)
1975
50
The Poland syndrome-clinical and genealogical data, dermatoglyphic analysis, and incidence. (4356989)
1973

Genetic Variations for Poland Syndrome

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Expression for genes affiliated with Poland Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Poland Syndrome

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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
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet