Poland Syndrome

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Disease Ontology 12 DOID:12961 OMIM 56 173800 MeSH 43 D011045 NCIt 49 C85017 SNOMED-CT 67 38371006 ICD10 32 Q79.8 MESH via Orphanet 44 D011045

ICD10 via Orphanet 33 Q79.8 UMLS via Orphanet 72 C0032357 Orphanet 58 ORPHA2911 MedGen 41 C0032357 SNOMED-CT via HPO 68 111266001 126926005 12818004 17190001 197811007 204878001 204888000 205101001 235856003 24072005 249695006 249696007 249769001 253101008 253366007 263681008 268251006 271611007 275259005 27637000 299032009 299034005 32659003 34048007 371199008 373413006 405752007 414564002 449715001 48777005 55999004 57190000 64217002 68359008 70142008 73211009 76916001 79120002 81793007 83145004 91855006 95427009 more UMLS 71 C0032357

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. People with Poland syndrome are typically missing part of one of the major chest muscles, called the pectoralis major. In most affected individuals, the missing part is the large section of the muscle that normally runs from the upper arm to the breastbone (sternum). The abnormal pectoralis major muscle may cause the chest to appear concave. In some cases, additional muscles on the affected side of the torso, including muscles in the chest wall, side, and shoulder, may be missing or underdeveloped. There may also be rib cage abnormalities, such as shortened ribs, and the ribs may be noticeable due to less fat under the skin (subcutaneous fat). Breast and nipple abnormalities may also occur, and underarm (axillary) hair is sometimes sparse or abnormally placed. In most cases, the abnormalities in the chest area do not cause health problems or affect movement. Many people with Poland syndrome have hand abnormalities on the affected side, commonly including an underdeveloped hand with abnormally short fingers (brachydactyly); small, underdeveloped (vestigial) fingers; and some fingers that are fused together (syndactyly). This combination of hand abnormalities is called symbrachydactyly. Some affected individuals have only one or two of these features, or have a mild hand abnormality that is hardly noticeable; more severe abnormalities can cause problems with use of the hand. The bones of the forearm (radius and ulna) are shortened in some people with Poland syndrome, but this shortening may also be difficult to detect unless measured. Mild cases of Poland syndrome without hand involvement may not be evident until puberty, when the differences (asymmetry) between the two sides of the chest become more apparent. By contrast, severely affected individuals have abnormalities of the chest, hand, or both that are apparent at birth. In rare cases, severely affected individuals have abnormalities of internal organs such as a lung or a kidney, or the heart is abnormally located in the right side of the chest (dextrocardia). Rarely, chest and hand abnormalities resembling those of Poland syndrome occur on both sides of the body, but researchers disagree as to whether this condition is a variant of Poland syndrome or a different disorder.

MalaCards based summary : Poland Syndrome, also known as poland sequence, 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 PLAAT2 (Phospholipase A And Acyltransferase 2), and among its related pathways/superpathways are Glycerophospholipid biosynthesis and Acyl chain remodelling of PE. Affiliated tissues include breast, bone and heart, and related phenotypes are aplasia/hypoplasia of the nipples and asymmetry of the thorax

NIH Rare Diseases : ⁵² 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.

OMIM : ⁵⁶ 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 : ⁷⁴ Poland syndrome is a birth defect characterized by an underdeveloped chest muscle and short webbed... more...

Clinical features from OMIM:

173800

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability after Maraba virus infection	GR00252-A-1	9.28	CCM2 PLAAT2 PLAAT4 PLAAT5
2	Decreased viability after Maraba virus infection	GR00252-A-2	9.28	PLAAT2 PLAAT4 PLAAT5
3	Decreased viability after Maraba virus infection	GR00252-A-3	9.28	CCM2 PLAAT4

Search Clinical Trials , NIH Clinical Center for Poland Syndrome

Search GEO for disease gene expression data for Poland Syndrome.