{"orpha":2473,"name":"McKusick-Kaufman syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Hydrometrocolpos-postaxial polydactyly syndrome","Kaufman-Mckusick syndrome"],"definition":"A rare genetic syndrome with multiple congenital anomalies characterized by urogenital malformations, mainly hydrometrocolpos (HMC) in females, postaxial polydactyly (PAP) and congenital heart disease (CHD). The disorder is allelic with Bardet-Biedl syndrome&nbsp;6 (BBS6).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2473/","orphanet_url":"https://www.orpha.net/en/disease/detail/2473","names":{"fr":{"name":"Syndrome de McKusick-Kaufman","synonyms":["Syndrome d'hydrométrocolpos-polydactylie"],"definition":"Syndrome génétique rare avec de multiples anomalies congénitales caractérisées par des malformations urogénitales, principalement un hydrométrocolpos (HMC) chez les femmes, une polydactylie post-axiale (PAP pour postaxial polydactyly) et une cardiopathie congénitale (CHD pour congenital heart disease). La maladie est un variant allélique du syndrome de Bardet-Biedl&nbsp;6 (BBS6)."},"de":{"name":"McKusick-Kaufman-Syndrom","synonyms":["Hydrometrokolpos - Polydaktylie"],"definition":"Ein seltenes genetisches Syndrom mit multiplen kongenitalen Anomalien, gekennzeichnet durch urogenitale Fehlbildungen, hauptsächlich Hydrometrokolpos (HMC) bei Frauen, postaxiale Polydaktylie (PAP) und kongenitale Herzfehler (KHK). Die Störung ist allelisch mit dem Bardet-Biedl-Syndrom 6 (BBS6)."},"es":{"name":"Síndrome de McKusick Kaufman","definition":"Es un síndrome de múltiples anomalías congénitas, poco frecuente y de origen genético, caracterizado por malformaciones urogenitales, principalmente hidrometrocolpos (HMC) en mujeres, polidactilia postaxial (PPA) y cardiopatía congénita (CC). El trastorno es alélico con el síndrome de Bardet-Biedl 6 (SBB6)."},"it":{"name":"Sindrome di McKusick-Kaufman","synonyms":["Idrometrocolpo - polidattilia"],"definition":"La sindrome di McKusick-Kaufman è una malattia dello sviluppo molto rara, di origine genetica ad esordio neonatale. È caratterizzata da malformazioni genito-urinarie, polidattilia e, raramente, cardiopatie congenite o malformazioni gastrointestinali."},"nl":{"name":"Syndroom van McKusick-Kaufman","synonyms":["Hydrometrocolpos - postaxiale polydactylie-syndroom","Syndroom van Kaufman-McKusick"],"definition":"Een zeldzaam genetisch syndroom met multipele congenitale anomalieën, gekenmerkt door urogenitale malformaties, vooral hydrometrocolpos (HMC) bij vrouwen, postaxiale polydactylie (PAP) en congenitale hartziekte (CHD). De aandoening is allelisch met syndroom van Bardet-Biedl 6 (BBS6)."},"pt":{"name":"Síndrome Mckusick-Kaufman","synonyms":["Síndrome Kaufman-Mckusick"]},"pl":{"name":"Zespół McKusicka i Kaufmana","synonyms":["Hydrometrocolpos - polidaktylia zaosiowa","Zespół Kaufmana i McKusicka"],"definition":"Rzadki zespół genetyczny z licznymi wadami wrodzonymi, w tym układu moczowo-płciowego, u kobiet głównie wodniakiem macicy i pochwy, polidaktylią pozaosiową oraz wrodzoną chorobą serca. Choroba alleliczna z zespołem Bardeta-Biedla 6 (BBS6)."},"cs":{"name":"McKusickův-Kaufmanův syndrom","synonyms":["Syndrom zahrnující hydrometrokolpos a postaxiální polydaktylii","MKKS syndrom","Kaufmanův-McKusickův syndrom","McKusick-Kaufmanův syndrom","Kaufman-McKusickův syndrom"]},"uk":{"name":"Синдром МакКьюсіка-Кауфмана","synonyms":["Синдром гідрометрокольпосно-постаксіальної полідактилії","Синдром Кауфмана-Маккузіка"],"definition":"A rare, genetic multiple congenital anomalies syndrome characterized by genitourinary malformations (hydrometrocolpos in females and in males, glanular hypospadias and prominent scrotal raphe) , postaxial polydactyly that may affect only one or several limbs, and to a lesser extent cardiac defects. Hydrometrocolpos is due to either a congenital obstruction, imperforate hymen or vaginal atressia, and causes a palpable mass and possibly hydronephrosis. Other anomalies occasionally reported include choanal atresia, pituitary dysplasia, esophageal atresia and distal tracheoesophageal fistula, Hirschsprung disease, vertebral anomalies, and hydrops fetalis. The disorder is allelic with Bardet-Biedl, and as some phenotypic overlap has been observed, patients should be reevaluated in later childhood for retinistis pigmentosas and other signs of Bardet-Biedl syndrome."},"zh":{"name":"McKusick-Kaufman综合征","synonyms":["子宫阴道积水-轴后性多指症综合征"]},"tr":{"name":"McKusick-Kaufman sendromu","synonyms":["Kaufman-Mckusick sendromu","Hidrometrokolpos-postaksiyal polidaktili sendromu"]}},"xrefs":[{"source":"OMIM","code":"236700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B70","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1068723140"},{"source":"MONDO","code":"0009367","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538159","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0948368","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3427","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10052312","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":156162,"name":"Renal ciliopathy","classifications":[156]},{"orpha":156183,"name":"Retinal ciliopathy due to mutation in Bardet-Biedl gene","classifications":[156]}],"children":[],"genes":[{"symbol":"MKKS","name":"MKKS centrosomal shuttling protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301675[PMID]","hgnc":"7108","ensembl":"ENSG00000125863","omim":"604896","loci":["20p12.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20301675[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":90.0,"area":"Worldwide","status":"Validated","source":"20301675[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Specific population","status":"Validated","source":"20301675[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0030010","label":"Hydrometrocolpos","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000807","label":"Glandular hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100779","label":"Urogenital sinus anomaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","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:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004397","label":"Ectopic anus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004383","label":"Hypoplastic left heart","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001830","label":"Postaxial foot polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008368","label":"Tarsal synostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012227","label":"Urethral stricture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Very rare (<4-1%)","criteria":null}]}}