{"orpha":2211,"name":"Hypertelorism-hypospadias-polysyndactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Acrofrontofacionasal dysostosis type 2","Acrofrontofacionasal syndrome type 2","Naguib-Richieri-Costa syndrome"],"definition":"Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2211/","orphanet_url":"https://www.orpha.net/en/disease/detail/2211","names":{"fr":{"name":"Syndrome d'hypertélorisme-hypospadias-polysyndactylie","synonyms":["Dysostose acrofrontofacionasale type 2","Syndrome acrofrontofacionasal type 2","Syndrome de Naguib-Richieri-Costa"],"definition":"Le syndrome hypertélorisme - hypospadias - polysyndactylie est un syndrome très rare associant une dysostose acro-fronto-facio-nasale à des anomalies génito-urinaires."},"de":{"name":"Hypertelorismus-Hypospadie-Polysyndaktylie-Syndrom","synonyms":["Akro-fronto-fazio-nasales Syndrom Typ 2","Dysplasie, akro-fonto-fazio-nasale, Typ 2","Naguib-Richieri-Costa-Syndrom"]},"es":{"name":"Síndrome hipertelorismo-hipospadias-polisindactilia","synonyms":["Disostosis acrofrontofacionasal tipo 2","Síndrome acrofrontofacionasal tipo 2","Síndrome de Naguib-Richieri-Costa"],"definition":"El síndrome de hipertelorismo-hipospadias-polisindactilia es un síndrome muy poco frecuente que asocia una disostosis acro-fronto-facio-nasal con anomalías genitourinarias."},"it":{"name":"Sindrome ipertelorismo-ipospadia-polisindattilia","synonyms":["Disostosi acro-fronto-facio-nasale, tipo 2","Sindrome acro-fronto-facio-nasale, tipo 2","Sindrome di Naguib-Richieri-Costa"]},"nl":{"name":"Hypertelorisme - hypospadie - polysyndactylie-syndroom","synonyms":["Acrofrontofacionasaal syndroom type 2","Acrofrontofacionasale dysostose type 2","Syndroom van Naguib-Richieri-Costa"],"definition":"Een zeer zeldzaam syndroom, gekenmerkt door associatie van acrofrontofacionasale dysostose met urogenitale anomalieën."},"pt":{"name":"Síndrome de hipertelorismo-hipospadias-polissindactilia","synonyms":["Síndrome Naguib"]},"pl":{"name":"Zespół hiperteloryzmu, spodziectwa i polisyndaktylii","synonyms":["Zespół Naguib, Richieri i Costa","Zespół kończynowo-czołowo-twarzowo-nosowy typu 2","Dyzostoza kończynowo-czołowo-twarzowo-nosowa typu 2"]},"cs":{"name":"Syndrom zahrnující hypertelorismus, hypospadii a polysyndaktylii","synonyms":["Akrofrontofacionazální dysostóza, typ 2","Akrofrontofacionazální syndrom, typ 2","Naguibův-Richieri-Costův syndrom","Naguib-Richieri-Costův syndrom"]},"uk":{"name":"Синдром гіпертелоризму-гіпоспадії-полісиндактилії","synonyms":["Акрофронтофаціальний дизостоз 2 типу","Акрофронтофаціальний синдром, тип 2","Синдром Нагіба-Річчієрі-Коста"],"definition":"Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies."},"zh":{"name":"器官间距过远-尿道下裂-多并指（趾）畸形综合征","synonyms":["骨发育不全2型"]},"tr":{"name":"Hipertelorizm-hipospadias-polisindaktili sendromu","synonyms":["Naguib-Richieri-Costa sendromu","Akrofrontofasiyonazal sendrom tip 2","Akrofrontofasiyonazal dizostoz tip 2"]}},"xrefs":[{"source":"OMIM","code":"239710","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD25.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009402","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538332","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855904","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"287","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":165707,"name":"Syndromic urogenital tract malformation","classifications":[147,156,185]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"18553510[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18553510[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-27","source":null,"terms":[{"hpo":"HP:0000036","label":"Abnormality of the penis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000270","label":"Delayed cranial suture closure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000039","label":"Epispadias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005469","label":"Flat occiput","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001177","label":"Preaxial hand polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000049","label":"Shawl scrotum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000048","label":"Bifid scrotum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010059","label":"Broad hallux phalanx","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000625","label":"Eyelid coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002536","label":"Abnormal cortical gyration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008388","label":"Abnormal toenail morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002084","label":"Encephalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030769","label":"Exencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001339","label":"Lissencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Occasional (29-5%)","criteria":null}]}}