{"orpha":2250,"name":"Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Bosma arhinia-microphthalmia syndrome","Bosma-Henkin-Christiansen syndrome"],"definition":"This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2250/","orphanet_url":"https://www.orpha.net/en/disease/detail/2250","names":{"fr":{"name":"Syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope","synonyms":["Syndrome de Bosma-Henkin-Christiansen"],"definition":"Ce syndrome est caractérisé par l'association d'une hypoplasie nasale sévère, une hypoplasie oculaire, une hyposmie, une hypogeusie et un hypogonadisme hypogonadotrope."},"de":{"name":"Hyposmie-nasale und okuläre Hypoplasie-hypogonadotroper Hypogonadismus-Syndrom","synonyms":["Arhinie-Mikrophthalmie-Syndrom Bosma","Bosma-Henkin-Christiansen-Syndrom"],"definition":"Dieses Syndrom ist gekennzeichnet durch die Assoziation einer schweren Hypoplasie der Nase, Hypoplasie der Augen, Hyposmie, Hypogeusie (herabgesetzte Schmeckempfindung) und hypogonadotropen Hypogonadismus."},"es":{"name":"Síndrome de hiposmia-hipoplasia nasal y ocular-hipogonadismo hipogonadotrópico","synonyms":["Síndrome de Bosma-Henkin-Christiansen","Síndrome de arrinia-microftalmia de Bosma"],"definition":"Este síndrome se caracteriza por la asociación de hipoplasia nasal grave, hipoplasia ocular, hiposmia, hipogeusia e hipogonadismo hipogonadotrópico."},"it":{"name":"Iposmia - ipoplasia oculare e nasale - ipogonadismo ipogonadotropo","synonyms":["Sindrome di Bosma-Henkin-Christiansen"]},"nl":{"name":"Hyposmie - nasale en oculaire hypoplasie - hypogonadotroop hypogonadisme-syndroom","synonyms":["Arrhinie - microftalmie-syndroom van Bosma","Syndroom van Bosma-Henkin-Christiansen"],"definition":"Een syndroom, gekenmerkt door de associatie van ernstige nasale hypoplasie, hypoplasie van de ogen, hyposmie, hypogeusie, en hypogonadotroop hypogonadisme."},"pt":{"name":"Síndrome de hiposmia-hipoplasia nasal e ocular-hipogonadismo hipogonadotrópico","synonyms":["Síndrome Bosma-Henkin-Christiansen","Síndrome de arrinia-microftalmia Bosma"],"definition":"Esta síndrome é caracterizada pela associação de hipoplasia nasal grave, hipoplasia dos olhos, hiposmia, hipogeusia e hipogonadismo hipogonadotrópico."},"pl":{"name":"Hiposmia - hipoplazja nosa i oczu - hipogonadyzm hipogonadotropowy","synonyms":["Zespół Bosma, Henkina i Christiansena"]},"cs":{"name":"Syndrom zahrnující hyposmii, nazální a okulární hypoplázii a hypogonadotropní hypogonadismus","synonyms":["Bosmaův-Henkinův-Christiansenův syndrom","Bosma-Henkin-Christiansenův syndrom"]},"uk":{"name":"Синдром гіпосмії - назальної та очної гіпоплазії - гіпогонадотропного гіпогонадизму","synonyms":["Синдром аринії-мікрофтальмії Босма","Синдром Босма-Хенкіна-Крістіансена"],"definition":"This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism."},"zh":{"name":"嗅觉减退-鼻和眼发育不全-低促性腺激素性性腺功能减退综合征","synonyms":["Bosma无鼻畸形-小眼畸形综合征"]},"tr":{"name":"Hipozmi-nazal ve oküler hipoplazi-hipogonadotropik hipogonadizm sendromu","synonyms":["Bosma-Henkin-Christiansen sendromu","Bosma arhinia-mikroftalmi sendromu"]}},"xrefs":[{"source":"OMIM","code":"603457","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016393","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"11323","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16393","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510568","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":1135,"name":"Arrhinia-choanal atresia-microphthalmia syndrome","status":"inactive"}],"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":435606,"name":"Genetic nose and cavum anomaly","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":156246,"name":"Nose and cavum anomaly","classifications":[147,200]},{"orpha":181387,"name":"Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism","classifications":[156,193,201,205]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"SMCHD1","name":"structural maintenance of chromosomes flexible hinge domain containing 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28067911[PMID]_28067909[PMID]","hgnc":"29090","ensembl":"ENSG00000101596","omim":"614982","loci":["18p11.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Unknown"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"6802865[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6802865[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-10-16","source":"38555111[PMID]_26842768[PMID]","terms":[{"hpo":"HP:0000309","label":"Abnormal midface morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100596","label":"Absent nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000458","label":"Anosmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009927","label":"Aplasia of the nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003241","label":"External genital hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006352","label":"Failure of eruption of permanent teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040326","label":"Hypoplasia of the olfactory bulb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004409","label":"Hyposmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009932","label":"Single naris","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000692","label":"Tooth malposition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009023","label":"Abdominal wall muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000528","label":"Anophthalmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009924","label":"Aplasia/Hypoplasia involving the nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030752","label":"Dacryocystocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000176","label":"Submucous cleft hard palate","frequency":"Occasional (29-5%)","criteria":null}]}}