{"orpha":2911,"name":"Poland syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Poland anomaly","Poland sequence"],"definition":"A rare congenital malformation characterized by a unilateral, complete or partial, absence of the pectoralis major (and often minor) muscle, ipsilateral breast and nipple anomalies, hypoplasia of the pectoral subcutaneous tissue, absence of pectoral and axillary hair, and possibly accompanied by chest wall and/or upper limb defects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2911/","orphanet_url":"https://www.orpha.net/en/disease/detail/2911","names":{"fr":{"name":"Syndrome de Poland","synonyms":["Anomalie de Poland","Séquence de Poland"],"definition":"Anomalie congénitale rare caractérisée par une absence unilatérale, complète ou partielle du grand (et souvent du petit) muscle pectoral, des anomalies ipsilatérales du sein et du mamelon, une hypoplasie du tissu pectoral sous-cutané, une absence de poils pectoraux et axillaires, pouvant s'accompagner de malformations de la paroi thoracique et/ou du bras."},"de":{"name":"Poland-Syndrom","synonyms":["Poland-Anomalie","Poland-Sequenz"],"definition":"Eine seltene angeborene Fehlbildung, die durch ein einseitiges, vollständiges oder teilweises Fehlen des Musculus pectoralis major (und oft auch des Musculus minor), ipsilaterale Brust- und Brustwarzenanomalien, eine Hypoplasie des subkutanen Brustgewebes, das Fehlen von Brust- und Achselhaaren gekennzeichnet ist und möglicherweise von Defekten der Brustwand und/oder der oberen Gliedmaßen begleitet wird."},"es":{"name":"Síndrome de Poland","definition":"Es una malformación congénita poco frecuente caracterizada por la ausencia unilateral, completa o parcial, del músculo pectoral mayor (y a menudo el menor), anomalías ipsilaterales de la mama y el pezón, hipoplasia del tejido subcutáneo pectoral, ausencia de vello pectoral y axilar, y que suele ir acompañada de alteraciones de la pared torácica y/o de las extremidades superiores."},"it":{"name":"Sindrome di Poland","definition":"La sindrome di Poland (SP) è una malformazione congenita rara caratterizzata dall'agenesia monolaterale, completa o parziale, del muscolo grande pettorale (e spesso del piccolo pettorale), da anomalie della mammella e del capezzolo omolaterale, dall'ipoplasia del tessuto sottocutaneo pettorale e dall'assenza dei peli pettorali e ascellari, talvolta associati a difetti della parete toracica e/o dell'arto superiore."},"nl":{"name":"Syndroom van Poland","synonyms":["Poland-anomalie","Poland-sequentie"],"definition":"Een zeldzame congenitale malformatie, gekarakteriseerd door unilaterale, volledige of gedeeltelijke, afwezigheid van musculus pectoralis major (en vaak minor), anomalieën van ipsilaterale borst en tepel, hypoplasie van pectoraal onderhuids weefsel, afwezigheid van borst- en okselhaar, en mogelijk vergezeld van defecten van borstwand en/of bovenste ledematen."},"pt":{"name":"Síndrome Poland","synonyms":["Anomalia de Poland","Sequência de Poland"]},"pl":{"name":"Zespół Polanda","synonyms":["Anomalia Polanda","Sekwencja Polanda"]},"cs":{"name":"Polandův syndrom","synonyms":["Polandova anomálie","Polandova sekvence"]},"uk":{"name":"Синдром Поланда","synonyms":["Аномалія Поланда","Послідовність Поланда"],"definition":"A rare congenital malformation characterized by a unilateral, complete or partial, absence of the pectoralis major (and often minor) muscle, ipsilateral breast and nipple anomalies, hypoplasia of the pectoral subcutaneous tissue, absence of pectoral and axillary hair, and possibly accompanied by chest wall and/or upper limb defects."},"zh":{"name":"Poland综合征","synonyms":["波伦序列征"]},"tr":{"name":"Polonya sendromu","synonyms":["Polonya anomalisi","Polonya dizisi"]}},"xrefs":[{"source":"OMIM","code":"173800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q79.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LB73.10","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1364451323"},{"source":"MONDO","code":"0008262","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D011045","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0032357","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7412","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10036007","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":956,"name":"Acropectororenal dysplasia","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498454,"name":"Dysostosis with brachydactyly with extraskeletal manifestations","classifications":[147,156,199]},{"orpha":180193,"name":"Syndromic breast hypoplasia/aplasia","classifications":[205]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Multigenic/multifactorial","Not applicable"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.1,"area":"Canada","status":"Validated","source":"205132[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Canada","status":"Not yet validated","source":"205132[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET_EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-10-18","source":"30335292[PMID]_32758259[PMID]","terms":[{"hpo":"HP:0007485","label":"Absence of subcutaneous fat","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009751","label":"Aplasia of the pectoralis major muscle","frequency":"Very frequent (99-80%)","criteria":"Pathognomonic sign"},{"hpo":"HP:0010311","label":"Aplasia/Hypoplasia of the breasts","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006709","label":"Aplasia/Hypoplasia of the nipples","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001555","label":"Asymmetry of the thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005255","label":"Absence of pectoralis minor muscle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009700","label":"Finger symphalangism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000089","label":"Renal hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006008","label":"Unilateral brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031095","label":"Abnormal humerus morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040071","label":"Abnormal morphology of ulna","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000766","label":"Abnormal sternum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001392","label":"Abnormality of the liver","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002814","label":"Abnormality of the lower limb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000356","label":"Abnormality of the outer ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004050","label":"Absent hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002488","label":"Acute leukemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006714","label":"Aplasia/Hypoplasia of the sternum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009601","label":"Aplasia/Hypoplasia of the thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010579","label":"Cone-shaped epiphysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001651","label":"Dextrocardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000081","label":"Duplicated collecting system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002084","label":"Encephalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001161","label":"Hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002937","label":"Hemivertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000921","label":"Missing ribs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100013","label":"Neoplasm of the breast","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002974","label":"Radioulnar synostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009594","label":"Retinal hamartoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000773","label":"Short ribs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001171","label":"Split hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000912","label":"Sprengel anomaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000070","label":"Ureterocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null}]}}