{"orpha":589856,"name":"Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development, and short stature. Developmental delay / intellectual disability are variably reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-589856/","orphanet_url":"https://www.orpha.net/en/disease/detail/589856","names":{"fr":{"name":"Syndrome d'atrésie des choanes-athélie-hypothyroïdie-retard pubertaire-petit taille","synonyms":["Syndrome d'atrésie des choanes-athélie-hypothyroïdie-retard pubertaire-petit taille associé à KMT2D"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par une atrésie des choanes, une athélie ou une hypoplasie des mamelons, des anomalies des arcs branchiaux, des malformations de l'oreille externe, une perte auditive, des anomalies de la thyroïde, un retard ou une absence de développement pubertaire et une petite taille. Des cas de retard de développement et de déficience intellectuelle sont rapportés de manière variable."},"de":{"name":"Choanalatresie-Athelie-Hypothyreose-verzögerte Pubertät-Kleinwuchs-Syndrom","synonyms":["KMT2D-assoziierte Choanalatresie mit Athelie, Hypothyreose, verzögerte Pubertät und Kleinwuchs"],"definition":"Ein seltenes genetisch bedingtes Syndrom mit multiplen angeborenen Anomalien/Dysmorphien, das durch Choanalatresie, Athelie oder hypoplastische Brustwarzen, Anomalien der Kiemenbögen, Fehlbildungen der äußeren Ohrmuschel, Hörverlust, Schilddrüsenanomalien, verzögerte oder ausbleibende Pubertätsentwicklung und Kleinwuchs gekennzeichnet ist. Über Entwicklungsverzögerungen/Intelligenzminderung wird unterschiedlich berichtet."},"es":{"name":"Síndrome de atresia de coanas-atelia-hipotiroidismo-retraso puberal-talla baja","synonyms":["Síndrome de atresia de coanas-atelia-hipotiroidismo-retraso puberal-talla baja asociado a KMT2D"],"definition":"Es un síndrome dismórfico con anomalías congénitas múltiples de origen genético poco frecuente caracterizado por atresia de coanas, atelia o pezones hipoplásicos, anomalías del arco branquial, malformaciones del pabellón auricular, hipoacusia, anomalías de la tiroides, retraso o ausencia del desarrollo puberal y talla baja. También se ha descrito retraso del desarrollo/discapacidad intelectual de forma variable."},"it":{"name":"Sindrome atresia delle coane, atelia, ipotiroidismo, ritardo della pubertà, bassa statura","synonyms":["Sindrome atresia delle coane, atelia, ipotiroidismo, ritardo della pubertà, bassa statura correlata a KMT2D"]},"nl":{"name":"Choane atresie - athelie - hypothyreoïdie - vertraagde puberteit - kleine gestalte-syndroom","synonyms":["KMT2D-gerelateerd choane atresie - athelie - hypothyreoïdie - vertraagde puberteit - kleine gestalte-syndroom"],"definition":"Een zeldzaam genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door choanale atresie, agenesie of hypoplasie van tepel, afwijkingen van kieuwboog, malformaties van uitwendig oor, gehoorverlies, afwijkingen van schildklier, vertraagde of afwezige puberale ontwikkeling, en kleine gestalte. Ontwikkelingsachterstand / intellectuele achterstand worden wisselend gerapporteerd."},"pt":{"name":"Síndrome de atrésia das coanas-atelia-hipotiroidismo-puberdade tardia-baixa estatura","definition":"Síndrome dismórfica/de anomalias congénitas múltiplas, genética e rara, caracterizada por atrésia das coanas, atelia ou mamilos hipoplásicos, anomalias do arco branquial, malformações do ouvido externo, défice auditivo, anomalias da tiróide, atraso ou ausência de desenvolvimento pubertário e baixa estatura. Atraso do desenvolvimento/perturbação do desenvolvimento intelectual são reportados de forma variável."},"pl":{"name":"Zespół zarośnięcia nozdrzy tylnych, braku brodawek sutkowych, niedoczynności tarczycy, opóźnionego dojrzewania i niskiego wzrostu","synonyms":["Zespół zarośnięcia nozdrzy tylnych, braku brodawek sutkowych, niedoczynności tarczycy, opóźnionego dojrzewania i niskiego wzrostu związany z KMT2D"]},"cs":{"name":"Syndrom zahrnující choanální atrézii, atelii, hypotyreózu, opožděnou pubertu a nízký vzrůst","synonyms":["KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome"]},"uk":{"name":"Синдром атрезії хоан-ателії-гіпотиреозу-затримки статевого дозрівання-низькорослості","synonyms":["KMT2D-повязаний синдром атрезіїї хоан-ателії-гіпотиреозу-затримки статевого дозрівання-низького зросту"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development, and short stature. Developmental delay / intellectual disability are variably reported."},"zh":{"name":"Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome","synonyms":["KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome"]},"tr":{"name":"Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome","synonyms":["KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome"]}},"xrefs":[{"source":"OMIM","code":"620186","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035651","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680310","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":435606,"name":"Genetic nose and cavum anomaly","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":156246,"name":"Nose and cavum anomaly","classifications":[147,200]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":181402,"name":"Syndrome with hypoparathyroidism","classifications":[156,193]},{"orpha":177107,"name":"Syndromic hypothyroidism","classifications":[156,193]}],"children":[],"genes":[{"symbol":"KMT2D","name":"lysine methyltransferase 2D","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31949313[PMID]","hgnc":"7133","ensembl":"ENSG00000167548","omim":"602113","loci":["12q13.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":18.0,"area":"Worldwide","status":"Validated","source":"34369642[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"34369642[PMID]"}],"phenotypes":null}