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MCID: PLN006
MIFTS: 39
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Poland Syndrome
Categories:
Oral diseases, Rare diseases
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MalaCards integrated aliases for Poland Syndrome:
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:33Classifications:
ICD10:
34
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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 bone, heart and skin, 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... |
Human phenotypes related to Poland Syndrome:33 (show top 50) (show all 59)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:173800 |
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Cochrane evidence based reviews: poland syndrome |
MalaCards organs/tissues related to Poland Syndrome:42
Bone,
Heart,
Skin,
Spleen,
Retina,
Tongue
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Articles related to Poland Syndrome:(show top 50) (show all 157)
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Genes related to Poland Syndrome (0 elite genes):(show all 11) - 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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Biological processes related to Poland Syndrome according to GeneCards Suite gene sharing:
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