{"orpha":90024,"name":"Deafness with labyrinthine aplasia, microtia, and microdontia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Hearing loss with labyrinthine aplasia, microtia, and microdontia","LAMM syndrome","Microdontia-type I microtia-deafness syndrome","Microdontia-type I microtia-hearing loss syndrome"],"definition":"Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90024/","orphanet_url":"https://www.orpha.net/en/disease/detail/90024","names":{"fr":{"name":"Surdité avec aplasie du labyrinthe, microtie et microdontie","synonyms":["Syndrome LAMM","Syndrome de microdontie-microtie type 1-surdité"],"definition":"La surdité avec aplasie labyrinthique, microtie et microdontie (syndrome LAMM) est une surdité génétique syndromique."},"de":{"name":"Schwerhörigkeit mit Labyrinthaplasie - Mikrotie - Mikrodontie","synonyms":["LAMM-Syndrom","Mikrodontie - Typ I Mikrotie - Taubheit"],"definition":"Schwerhörigkeit mit Labyrinth-Aplasie, Mikrotie und Mikrodontie (LAMM) ist ein erbliches Schwerhörigkeits-Syndrom."},"es":{"name":"Sordera con aplasia del laberinto, microtia y microdoncia","synonyms":["Hipoacusia con aplasia del laberinto, microtia y microdoncia","Síndrome LAMM","Síndrome de microdoncia-microtia tipo 1-hipoacusia","Síndrome de microdoncia-microtia tipo 1-sordera"],"definition":"La sordera con aplasia del laberinto, microtia y microdontia (LAMM) es un síndrome de transmisión genética."},"it":{"name":"Sordità con aplasia labirintica, microtia e microdontia","synonyms":["Microdontia - microtia tipo 1 - sordità","Sindrome LAMM"]},"nl":{"name":"Doofheid met aplasie van labyrint, microtie en microdontie","synonyms":["Gehoorverlies met aplasie van labyrint, microtie en microdontie","LAMM-syndroom","Microdontie - type I microtie - doofheid-syndroom","Microdontie - type I microtie - gehoorverlies-syndroom"],"definition":"Doofheid met aplasie van labyrint, microtie en microdontie (LAMM) is een erfelijk doofheid-syndroom."},"pt":{"name":"Surdez com aplasia do labirinto, microtia e microdontia","synonyms":["Perda auditiva com aplasia do labirinto, microtia e microdontia","Síndrome LAMM","Síndrome de microdontia-microtia tipo I-perda auditiva","Síndrome de microdontia-microtia tipo I-surdez"],"definition":"A surdez com aplasia labiríntica, microtia e microdontia (LAMM) é um síndrome de surdez de transmissão genética."},"pl":{"name":"Głuchota z aplazją tętnicy błędnika, mikrotią i mikrodoncją","synonyms":["Mikrodoncja - mikrotia typu 1 - głuchota","Zespół LAMM"]},"cs":{"name":"Hluchota s aplázií labyrintu, mikrocií a mikrodoncií","synonyms":["LAMM syndrom","Syndrom zahrnující mikrodoncii, mikrocii typu I a hluchotu"]},"uk":{"name":"Глухота з лабіринтовою аплазією, мікротією та мікродонтією","synonyms":["Втрата слуху при лабіринтовій аплазії, мікротії та мікродонтії","Синдром LАММ","Синдром мікротія-глухоти I типу","Синдром мікроприглухуватості з мікротією I типу"],"definition":"Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome."},"zh":{"name":"耳聋伴迷路发育不全小耳和小牙","synonyms":["耳聋伴迷路发育不全、小耳畸形和小牙症"]},"tr":{"name":"Labirent aplazisi, mikroti ve mikrodonti ile seyreden sağırlık","synonyms":["LAMM sendromu","Mikrodonti-tip I mikroti-sağırlık sendromu","Microdonti-tip I mikroti-işitme kaybı sendromu","Labirent aplazisi, mikroti ve mikrodonti ile seyreden işitme kaybı"]}},"xrefs":[{"source":"OMIM","code":"610706","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q16.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1619903146"},{"source":"MONDO","code":"0012541","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565195","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1853144","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10707","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98036,"name":"Rare otorhinolaryngologic disease"},"parents":[{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"FGF3","name":"fibroblast growth factor 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22993869[PMID]","hgnc":"3681","ensembl":"ENSG00000186895","omim":"164950","loci":["11q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":56.0,"area":"Worldwide","status":"Validated","source":"22993869[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22993869[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"22993869[PMID]_18435799[PMID]","terms":[{"hpo":"HP:0001291","label":"Abnormal cranial nerve morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011372","label":"Aplasia of the inner ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000698","label":"Conical tooth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000687","label":"Widely spaced teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008499","label":"High hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010609","label":"Skin tags","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011069","label":"Supernumerary tooth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Occasional (29-5%)","criteria":null}]}}