{"orpha":2662,"name":"Keipert syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Nasodigitoacoustic syndrome"],"definition":"A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2662/","orphanet_url":"https://www.orpha.net/en/disease/detail/2662","names":{"fr":{"name":"Syndrome de Keipert","synonyms":["Syndrome naso-digito-acoustique"],"definition":"Le syndrome de Keipert est un syndrome rare d'anomalies congénitales multiples caractérisé par une dysmorphie faciale (hypertélorisme, racine nasale large et haute, arête nasale déprimée, columelle courte, maxillaire sous-développée, vermillon de la lèvre supérieure proéminent, en arc de Cupidon), une surdité neurosensorielle congénitale légère à sévère et des anomalies squelettiques consistant en une brachytéléphalangie, de larges pouces/hallux et de larges épiphyses arrondies. Les manifestations additionnelles incluent une sténose valvulaire pulmonaire, un enrouement et une agénésie rénale."},"de":{"name":"Keipert-Syndrom","synonyms":["Naso-digito-akustisches Syndrom"],"definition":"Das Keipert-Syndrom ist ein seltenes Syndrom mit multiplen kongenitalen Anomalien, das durch Gesichtsdysmorphismus (Hypertelorismus, breiter und hoher Nasenrücken, abgesenkter Nasenrücken, kurze Columella, unterentwickelter Oberkiefer und prominenter Amorbogen der Oberlippe), leichte bis schwere kongenitale Schallempfindungsschwerhörigkeit und Skelettanomalien, bestehend aus Brachytelephalangie und breiten Daumen und Großzehen mit großen, abgerundeten Epiphysen, gekennzeichnet ist. Weitere beschriebene Manifestationen sind Pulmonalklappenstenose, Heiserkeit der Stimme und Nierenagenesie."},"es":{"name":"Síndrome de Keipert","synonyms":["Síndrome naso dígito acústico"],"definition":"Es un síndrome de anomalías congénitas múltiples poco frecuente caracterizado por dismorfia facial (hipertelorismo, puente nasal ancho y alto, cresta nasal deprimida, columela corta, maxila poco desarrollada y borde bermellón superior del arco de cupido prominente), pérdida auditiva neurosensorial congénita de leve a grave, y anomalías esqueléticas consistentes en braquitelefalangia y pulgares y halluces anchos con epífisis grandes y redondeadas. Otras manifestaciones adicionales descritas incluyen estenosis de la válvula pulmonar, ronquera y agenesia renal."},"it":{"name":"Sindrome di Keipert","synonyms":["Sindrome naso-digito-acustica"],"definition":"La sindrome di Keipert è una malattia rara da anomalie congenite multiple, caratterizzata da dismorfismi facciali (ipertelorismo, radice del naso ampia e prominente, sella nasale infossata, columella corta, mascella iposviluppata, porzione mucosa del labbro superiore con arco di Cupido), sordità neurosensoriale congenita lieve-grave e anomalie scheletriche (brachitelefalangia, pollici e alluci grandi con epifisi ampie e arrotondate). Sono stati descritti pazienti con stenosi della valvola polmonare, raucedine e agenesia renale."},"nl":{"name":"Syndroom van Keipert","synonyms":["Naso-digito-akoestisch syndroom"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën, gekarakteriseerd door faciale dysmorfie (hypertelorisme, brede en hoge neusbrug, ingezakte neusrug, korte columella, onderontwikkeld bovenkaakbeen, en prominent cupidoboogvormig vermiljoen van bovenlip), mild tot ernstig congenitaal sensorineuraal gehoorverlies, en skeletafwijkingen bestaande uit brachytelefalangie en brede duimen en grote tenen met grote, ronde epifyses. Bijkomende manifestaties die werden gerapporteerd, zijn onder meer stenose van de pulmonalisklep, heesheid en agenesie van nieren."},"pt":{"name":"Síndrome Keipert","synonyms":["Síndrome naso-digito-acústico"]},"pl":{"name":"Zespół Keiperta","synonyms":["Zespół nosowo-palcowo-akustyczny"]},"cs":{"name":"Keipertův syndrom","synonyms":["Nazodigitoakustický syndrom"]},"uk":{"name":"Синдром Кейперта","synonyms":["Назодигітоакустичний синдром"],"definition":"A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis."},"zh":{"name":"Keipert综合征","synonyms":["鼻指（趾）听觉综合征"]},"tr":{"name":"Keipert sendromu","synonyms":["Nazodijitoakustik sendrom"]}},"xrefs":[{"source":"OMIM","code":"301026","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009720","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538337","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850627","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"267","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":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"GPC4","name":"glypican 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30982611[PMID]","hgnc":"4452","ensembl":"ENSG00000076716","omim":"300168","loci":["Xq26.2"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"21567928[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21567928[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010185","label":"Aplasia/Hypoplasia of the distal phalanges of the toes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009836","label":"Broad distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010059","label":"Broad hallux phalanx","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010109","label":"Short hallux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010624","label":"Aplastic/hypoplastic toenail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002263","label":"Exaggerated cupid's bow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010804","label":"Tented upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null}]}}