{"orpha":293958,"name":"Hypertelorism-preauricular sinus-punctual pits-deafness syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["HPPD","Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome"],"definition":"A rare developmental defect during embryogenesis syndrome characterized by hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-293958/","orphanet_url":"https://www.orpha.net/en/disease/detail/293958","names":{"fr":{"name":"Syndrome d'hypertélorisme-sinus pré-auriculaire-obstruction du canal lacrymal-surdité","synonyms":["HPPD"],"definition":"Anomalie syndromique rare du développement embryonnaire caractérisée par un hypertélorisme, des sinus pré-auriculaires bilatéraux, des fosses pré-auriculaires isolées bilatérales, une obstruction du canal lacrymal, une perte d'audition, des plis de flexion palmaire anormaux et un triradius axial distal bilatéral. Des cas de scrotum en châle ont également été rapportés."},"de":{"name":"Hypertelorismus-Präaurikulärer Sinus - punktuelle Löcher -Schwerhörigkeit-Syndrom","synonyms":["HPPD"]},"es":{"name":"Síndrome de hipertelorismo-senos preauriculares-obstrucción del conducto lagrimal-sordera","synonyms":["HPPD","Síndrome de hipertelorismo-seno preauricular-obstrucción del conducto lagrimal-hipoacusia"],"definition":"El síndrome de hipertelorismo - senos preauriculares - obstrucción del conducto lagrimal - sordera, es un síndrome poco frecuente por defectos del desarrollo embrionario, caracterizado por hipertelorismo, senos preauriculares bilaterales, fositas bilaterales aisladas, obstrucción del conducto lagrimal, pérdida auditiva, pliegues de flexión palmar anómalos y trirradio axial distal bilateral. También se ha descrito la presencia de escroto en chal."},"it":{"name":"Sindrome ipertelorismo, seno e fossette preuricolari, sordità","synonyms":["HPPD","Sindrome ipertelorismo-seno preauricolare-ostruzione del condotto lacrimale-perdita dell'udito"],"definition":"La sindrome che associa l'ipertelorismo, il seno e le fossette preauricolari e la sordità è un difetto raro dello sviluppo dell'embrione, caratterizzato da ipertelorismo, seno preauricolare bilaterale, fossette bilaterali, ostruzione del dotto lacrimale, sordità, anomalie delle pieghe di flessione palmari e triradio assiale dislocato distalmente su entrambe le mani. Può associarsi a scroto a scialle."},"nl":{"name":"Hypertelorisme - preauriculaire fistel - punctale fistels - doofheid-syndroom","synonyms":["HPPD","Hypertelorisme - preauriculaire fistel - punctale fistels - gehoorverlies-syndroom"],"definition":"Hypertelorisme - preauriculaire sinus - punctale fistels - doofheid-syndroom is een zeldzaam syndroom met een ontwikkelingsdefect tijdens de embryogenese, en wordt gekarakteriseerd door hypertelorisme, bilaterale preauriculaire fistels, bilaterale punctale fistels, obstructie van de traankanalen, gehoorverlies, abnormale flexieplooien op de handpalmen en bilaterale distale axiale triradii. Sjaalscrotum werd ook reeds gerapporteerd."},"pt":{"name":"Síndrome hipertelorismo - seio preauricular - obstrução do ducto lacrimal - surdez","synonyms":["HPPD","Síndrome hipertelorismo - seio pré-auricular - obstrução do ducto lacrimal - surdez"]},"pl":{"name":"Zespół hiperteloryzm-zatoka przeduszna-dołki punktowe-głuchota","synonyms":["HPPD","Zespół hiperteloryzm-zatoka przeduszna-dołki punktowe-utrata słuchu"],"definition":"*Zespół hiperteloryzm-zatoka przeduszna-dołki punktowe-głuchota jest rzadką wadą rozwojową powstałą podczas embriogenezy, która charakteryzuje się hiperteloryzmem, obustronną zatoką przeduszną, obustronnymi dołkami punktowymi (przedusznymi), niedrożnością przewodów łzowych, niedosłuchem, nieprawidłową bruzdą zgięciową dłoni i obustronnymi dystalnymi osiowymi triradiusami dłoni. Opisywano również \"szalową\" mosznę (ang. shawl scrotum)."},"cs":{"name":"Syndrom zahrnující hypertelorismus, preaurikální sinus, \"punctal pits\" a hluchotu","synonyms":["HPPD","Syndrom zahrnující hypertelorismus, preaurikální sinus, \"punctal pits\" a ztrátu sluchu"]},"uk":{"name":"Синдром гіпертелоризму-преаурикулярного синусу-точкових ямок-глухоти","synonyms":["HPPD","Синдром гіпертелоризму - преаурикулярного синусу - точкових ямок - приглухуватості"],"definition":"A rare developmental defect during embryogenesis syndrome characterized by hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported."},"zh":{"name":"耳垂-耳前窦-点状凹陷-耳聋综合征","synonyms":["耳垂-耳前窦-点状凹-耳聋综合征"],"definition":"眼距过宽-耳前窦道-准时凹-耳聋综合征是一种罕见的胚胎发育缺陷综合征，主要表现为眼距过宽、双侧耳前窦道、双侧准时凹、泪管阻塞、听力损失、掌屈折痕异常和双侧远端轴向三桡骨。披肩状阴囊也有报道。"},"tr":{"name":"Hipertelorizm-preauriküler sinüs-punktal pit-sağırlık sendromu","synonyms":["HPPD","Hipertelorizm-preauriküler sinüs-punktual pits-işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"614187","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013614","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751125","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"21480481[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}