{"orpha":85165,"name":"Severe achondroplasia-developmental delay-acanthosis nigricans syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SADDAN"],"definition":"Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the <i>FGFR3</i> gene; 4p16.3).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85165/","orphanet_url":"https://www.orpha.net/en/disease/detail/85165","names":{"fr":{"name":"Syndrome d'achondroplasie sévère-retard de développement-acanthosis nigricans","synonyms":["SADDAN"],"definition":"Le syndrome d'achondroplasie sévère-retard de développement-acanthosis nigricans est caractérisé par l'association d'une achondroplasie sévère, d'un retard de développement et d'un acanthosis nigricans. Il a été décrit chez quatre individus non apparentés. Des anomalies de structure du système nerveux central, une épilepsie et une surdité ont également été rapportées, ainsi qu'une incurvation de la clavicule, du fémur, du tibia et du péroné dans certains cas. Ce syndrome est due à une substitution Lys650Met dans le domaine kinase de FGFR3, le récepteur 3 de facteur de croissance fibroblastique (codé par le gène <i>FGFR3</i> ; 4p16.3)."},"de":{"name":"Schwere Achondroplasie-Entwicklungsverzögerung-Acanthosis nigricans-Syndrom","synonyms":["SADDAN-Dysplasie"],"definition":"Das Syndrom ist gekennzeichnet durch schwere Achondroplasie, Entwicklungsverzögerung und Acanthosis nigricans."},"es":{"name":"Síndrome de acondroplasia grave-retraso del desarrollo-acantosis nigricans","synonyms":["SADDAN"],"definition":"Es un síndrome caracterizado por la asociación de acondroplasia grave con retraso del desarrollo y acantosis nigricans. Hasta la fecha se ha notificado en cuatro individuos no emparentados. También se describieron anomalías estructurales del sistema nervioso central, crisis epilépticas e hipoacusia, así como incurvación de la clavícula, el fémur, la tibia y el peroné en alguno de los casos. El síndrome está causado por una sustitución Lys650Met en el dominio cinasa del receptor 3 del factor de crecimiento de fibroblastos (codificado por el gen <i>FGFR3</i>; 4p16.3)."},"it":{"name":"Sindrome acondroplasia grave -ritardo dello sviluppo-acanthosis nigricans","synonyms":["SADDAN"]},"nl":{"name":"Ernstige achondroplasie - ontwikkelingsachterstand - acanthosis nigricans-syndroom","synonyms":["SADDAN"],"definition":"Ernstige achondroplasie - ontwikkelingsachterstand - acanthosis nigricans-syndroom wordt gekenmerkt door de associatie van ernstige achondroplasie met ontwikkelingsachterstand en acanthosis nigricans. De aandoening werd beschreven bij vier niet-verwante individuen. Structurele anomalieën van centraal zenuwstelsel, insulten en gehoorverlies werden ook gerapporteerd, samen met kromstand van sleutelbeen, dijbeen, scheenbeen en kuitbeen in sommige gevallen. Het syndroom wordt veroorzaakt door Lys650Met substitutie in ket kinasedomein van fibroblastgroeifactorreceptor 3 (gecodeerd door het gen <i>FGFR3</i>; 4p16.3)."},"pt":{"name":"Síndrome de acondroplasia grave-perturbação do desenvolvimento-acantose nigricans","synonyms":["SADDAN"]},"pl":{"name":"Ciężka achondroplazja - opóźnienie rozwoju - rogowacenie ciemne","synonyms":["SADDAN"]},"cs":{"name":"Syndrom zahrnující achondroplázii, opoždění vývoje a acanthosis nigricans","synonyms":["SADDAN"]},"uk":{"name":"Синдром тяжкої ахондроплазії-затримки розвитку-чорного акантозу","synonyms":["SADDAN"],"definition":"Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the <i>FGFR3</i> gene; 4p16.3)."},"zh":{"name":"严重软骨发育不全-发育迟缓-黑棘皮病综合征","synonyms":["SADDAN"]},"tr":{"name":"Ağır akondroplazi-gelişme geriliği-akantozis nigrikans sendromu","synonyms":["SADDAN"]}},"xrefs":[{"source":"OMIM","code":"616482","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014658","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2674173","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9443","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10082381","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93420,"name":"FGFR3-related chondrodysplasia","classifications":[156]},{"orpha":79359,"name":"Other epidermal disorder","classifications":[187]},{"orpha":79360,"name":"Other genetic epidermal disease","classifications":[156]},{"orpha":364536,"name":"Primary bone dysplasia with micromelia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"FGFR3","name":"fibroblast growth factor receptor 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10053006[PMID]_18076102[PMID]","hgnc":"3690","ensembl":"ENSG00000068078","omim":"134934","loci":["4p16.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"10053006[PMID]_18076102[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10053006[PMID]_18076102[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"10053006[PMID]_10377013[PMID]","terms":[{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009118","label":"Aplasia/Hypoplasia of the mandible","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012081","label":"Enlarged cerebellum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002197","label":"Generalized-onset seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005871","label":"Metaphyseal chondrodysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000889","label":"Abnormality of the clavicle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002980","label":"Femoral bowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010502","label":"Fibular bowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002982","label":"Tibial bowing","frequency":"Frequent (79-30%)","criteria":null}]}}