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MCID: PLN006
MIFTS: 50
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Poland Syndrome
Categories:
Rare diseases, Reproductive diseases, Bone diseases, Fetal diseases, Oral diseases
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MalaCards integrated aliases for Poland Syndrome:
Characteristics:Orphanet epidemiological data:59
poland syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy; 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:32Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Anatomical: Reproductive diseases Bone diseases Oral diseases
ICD10:
33
34
Orphanet: 59
Rare gynaecological and obstetric diseases
Rare bone diseases
Developmental anomalies during embryogenesis
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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 sequence, is related to moebius syndrome and webster deming syndrome. 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 CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4). Affiliated tissues include bone, liver and spleen, and related phenotypes are short neck and finger syndactyly 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) 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. Wikipedia : 76 Poland syndrome, named after British surgeon Alfred Poland, is a rare birth defect characterized by... more... |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:173800Human phenotypes related to Poland Syndrome:59 32 (show all 45)
MGI Mouse Phenotypes related to Poland Syndrome:46
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Cochrane evidence based reviews: poland syndrome |
MalaCards organs/tissues related to Poland Syndrome:41
Bone,
Liver,
Spleen,
Retina
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Articles related to Poland Syndrome:(show top 50) (show all 144)
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- Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Poland Syndrome.
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Cellular components related to Poland Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Poland Syndrome according to GeneCards Suite gene sharing:(show all 13)
Molecular functions related to Poland Syndrome according to GeneCards Suite gene sharing:
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