{"orpha":140952,"name":"Syndactyly-telecanthus-anogenital and renal malformations syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["STAR syndrome"],"definition":"A rare malformation syndrome characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-140952/","orphanet_url":"https://www.orpha.net/en/disease/detail/140952","names":{"fr":{"name":"Syndrome de syndactylie-télécanthus-malformations rénale et anogénitale","synonyms":["Syndrome STAR"],"definition":"Syndrome malformatif rare caractérisé par l'association d'une syndactylie des orteils, d'une dysmorphie faciale à type de télécanthus (yeux anormalement écartés) et d'une pointe nasale large, de malformations urogénitales et d'une atrésie anale"},"de":{"name":"Syndaktylie-Telekanthus-anogenitale und renale Fehlbildungen-Syndrom","synonyms":["STAR-Syndrom"],"definition":"Ein seltenes Fehlbildungssyndrom, das durch die Kombination von Zehen-Syndaktylie, Gesichtsdysmorphien einschließlich Telekanthus (abnormaler Abstand zwischen den Augen) und einer breiten Nasenspitze, urogenitalen Fehlbildungen und Analatresie gekennzeichnet ist."},"es":{"name":"Síndrome de sindactilia-telecanto-malformaciones renales y anogenitales","synonyms":["Síndrome STAR"],"definition":"Es un síndrome de malformación poco frecuente que se caracteriza por la asociación de sindactilia del dedo del pie, dismorfia facial, que incluye telecanto (distancia anómala entre los ojos) y punta de la nariz ancha, malformaciones urogenitales y atresia anal."},"it":{"name":"Sindattilia - telecanto - malformazioni anogenitali e renali"},"nl":{"name":"Syndactylie - telecanthus - anogenitale en renale malformaties-syndroom","synonyms":["STAR-syndroom"],"definition":"Een zeldzaam malformatiesyndroom, gekenmerkt door de associatie van syndactylie van tenen, faciale dysmorfie met onder meer telecanthus (abnormale afstand tussen de ogen) en brede neuspunt, urogenitale malformaties, en anusatresie."},"pt":{"name":"Síndrome de sindactilia-telecanto-malformações anogenitais e renais","synonyms":["Síndrome STAR"],"definition":"Síndrome rara de malformação congénita caracterizada pela associação de sindactilia dos pés, dismorfismo facial incluindo telecanto (distância anómala entre os olhos) e ponte nasal alargada, malformações urogenitais e atresia anal."},"pl":{"name":"Syndaktylia - telekantus - malformacje odbytowo-genitalne i nerek","synonyms":["Zespół STAR"]},"cs":{"name":"Syndrom zahrnující syndaktylii, telekantus a anogenitální a renální malformace","synonyms":["STAR syndrome"]},"uk":{"name":"Синдром синдактилії-телекантуса-аногенітальних та ниркових вад розвитку","synonyms":["Синдром STAR"],"definition":"A rare malformation syndrome characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia."},"zh":{"name":"并趾畸形、内眦距过宽和肛门生殖器及肾畸形","synonyms":["STAR综合征"],"definition":"该综合征的特征与脚趾并趾、内眦距过宽（双眼距离异常）和鼻尖过宽的面部畸形，泌尿生殖器畸形和肛门闭锁相关。"},"tr":{"name":"Sindaktili-telekantus-anogenital ve renal malformasyon sendromu","synonyms":["STAR sendromu"]}},"xrefs":[{"source":"OMIM","code":"300707","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2029143650"},{"source":"MONDO","code":"0010408","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567475","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2678045","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10295","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":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","classifications":[147,156,199]},{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]}],"children":[],"genes":[{"symbol":"CCNQ","name":"cyclin Q","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18297069[PMID]","hgnc":"28434","ensembl":"ENSG00000262919","omim":"300708","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"18297069[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18297069[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"18297069[PMID]","terms":[{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000394","label":"Lop ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000813","label":"Bicornuate uterus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008665","label":"Clitoral hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000086","label":"Ectopic kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000066","label":"Labial hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000625","label":"Eyelid coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002984","label":"Hypoplasia of the radius","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007754","label":"Macular dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011560","label":"Mitral atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004415","label":"Pulmonary artery stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000556","label":"Retinal dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003396","label":"Syringomyelia","frequency":"Occasional (29-5%)","criteria":null}]}}