{"orpha":508476,"name":"Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome","Hyaluronidase 2 deficiency"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability characterized by unilateral or bilateral cleft lip and palate and craniofacial dysmorphism (including frontal bossing, hypertelorism, broad flat nasal bridge, cupped ears/thickened helices, and micrognathia). Additional manifestations are variable congenital cardiac anomalies, pectus excavatum, abnormalities of the hands and feet, ocular abnormalities (myopia, cataract, staphyloma), and conductive or sensorineural hearing loss.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-508476/","orphanet_url":"https://www.orpha.net/en/disease/detail/508476","names":{"fr":{"name":"Syndrome de fente labiopalatine-dysmorphie craniofaciale-cardiopathie congénitale-surdité","synonyms":["Déficit en hyaluronidase 2"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique sans déficience intellectuelle caractérisé par une fente labiale et palatine unilatérale ou bilatérale ainsi qu'une dysmorphie crânio-faciale (à savoir, une bosse frontale, l'hypertélorisme, un pont nasal plat et large, l'hélice de l'oreille épaissie et repliée et une micrognathie). Les autres signes cliniques sont des anomalies cardiaques congénitales variables, un pectus excavatum, des anomalies des mains et des pieds, des anomalies oculaires (myopie, cataracte, staphylome) et une surdité de transmission ou de perception."},"de":{"name":"Lippen-Gaumenspalte-kraniofaziale Dysmorphie-kongenitaler Herzfehler-Hörverlust-Syndrom","synonyms":["Hyaluronidase 2-Defizienz","Hyaluronidase 2-Mangel"],"definition":"Ein seltenes genetisch bedingtes Dysmorphie-Syndrom ohne Intelligenzminderung, das durch ein- oder beidseitige Lippen-Kiefer-Gaumenspalten und kraniofaziale Dysmorphien (einschließlich Balkonstirn, Hypertelorismus, breiter flacher Nasenrücken, schalenförmige Ohren/verdickte Helices und Mikrognathie) gekennzeichnet ist. Weitere Erscheinungsformen sind variable angeborene Herzanomalien, Pectus excavatum, Anomalien an Händen und Füßen, Augenanomalien (Myopie, Katarakt, Staphylom) und Schallleitungs- oder Innenohrschwerhörigkeit."},"es":{"name":"Síndrome de labio leporino y paladar hendido-dismorfia craneofacial-defecto cardíaco congénito-hipoacusia","synonyms":["Deficiencia de hialuronidasa 2","Síndrome de labio leporino y paladar hendido-dismorfia craneofacial-defecto cardíaco congénito-sordera"],"definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas de base genética y poco frecuente sin discapacidad intelectual caracterizado por hendidura labio-palatina uni- o bilateral y dismorfia craneofacial (incluyendo frente prominente, hipertelorismo, puente nasal ancho y aplanado, orejas ahuecadas/hélix engrosado y micrognatia). Otras manifestaciones adicionales incluyen anomalías cardíacas congénitas variables, <i>pectus excavatum</i>, anomalías de las manos y los pies, anomalías oculares (miopía, cataratas, estafiloma) e hipoacusia de conducción o neurosensorial."},"it":{"name":"Sindrome labioschisi e palatoschisi-dismorfismi craniofacciali-cardiopatie congenite-sordità","synonyms":["Deficit di ialuronidasi 2"],"definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, in assenza di disabilità intellettiva, caratterizzata da labio/palatoschisi mono- o bilaterale e dismorfismi craniofacciali (fronte bombata, ipertelorismo, sella nasale ampia e piatta, orecchie a coppa con ispessimento dell'elice e micrognazia). Altri segni clinici sono le cardiopatie congenite, il pectus excavatum, le anomalie delle mani e dei piedi, le anomalie oculari (miopia, cataratta, stafiloma) e la sordità neurosensoriale o di conduzione."},"nl":{"name":"Gespleten lip en verhemelte - craniofaciale dysmorfie - congenitaal hartdefect - gehoorverlies-syndroom","synonyms":["Hyaluronidase 2-deficiëntie"],"definition":"Een zeldzaam, genetisch meervoudige congenitale anomalieën/dysmorfie-syndroom zonder intellectuele achterstand, gekarakteriseerd door unilateraal of bilateraal gespleten lip en verhemelte, en craniofaciale dysmorfie (met onder meer boller voorhoofd, hypertelorisme, brede en platte neusbrug, komvormige oren/verdikte helices, en micrognathie). Bijkomende manifestaties zijn variabele congenitale hartanomalieën, pectus excavatum, anomalieën van handen en voeten, ooganomalieën (myopie, cataract, stafyloom), en conductief of sensorineuraal gehoorverlies."},"pt":{"name":"Síndrome de fenda lábio-palatina-dismorfia craniofacial-cardiopatia congénita-perda auditiva"},"pl":{"name":"Zespół rozszczep wargi i podniebienia-dysmorfia twarzoczaszki-wrodzona wada serca- głuchota","synonyms":["Niedobór hialuronidazy 2"]},"cs":{"name":"Syndrom zahrnující rozštěp rtu a patra, kraniofaciální dysmorfismus, vrozenou srdeční vadu a ztrátu sluchu","synonyms":["Deficit hyaluronidázy 2"]},"uk":{"name":"Синдром розщілини губи та піднебіння-черепно-лицьового дизморфізму- вродженої вади серця-втрати слуху","synonyms":["Синдром розщілини губи та піднебіння - черепно-лицьового дизморфізму - вродженої вади серця - глухоти","Дефіцит гіалуронідази 2"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability characterized by unilateral or bilateral cleft lip and palate and craniofacial dysmorphism (including frontal bossing, hypertelorism, broad flat nasal bridge, cupped ears/thickened helices, and micrognathia). Additional manifestations are variable congenital cardiac anomalies, pectus excavatum, abnormalities of the hands and feet, ocular abnormalities (myopia, cataract, staphyloma), and conductive or sensorineural hearing loss."},"zh":{"name":"唇腭裂-颅面畸形-先天性心脏病-听力丧失综合症","synonyms":["透明质酸酶2缺乏症"]},"tr":{"name":"Yarık dudak ve damak-kraniofasiyal dismorfizm-doğumsal kalp defekti-işitme kaybı sendromu","synonyms":["Yarık dudak ve damak-kraniyofasiyal dismorfizm-doğumsal kalp defekti-sağırlık sendromu","Hyaluronidaz 2 eksikliği"]}},"xrefs":[{"source":"OMIM","code":"621063","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.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0034820","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568767","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":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"HYAL2","name":"hyaluronidase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Not yet assessed","source":"28081210[PMID]","hgnc":"5321","ensembl":"ENSG00000068001","omim":"603551","loci":["3p21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"28081210[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28081210[PMID]"}],"phenotypes":null}