{"orpha":93262,"name":"Crouzon syndrome-acanthosis nigricans syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Crouzon-dermoskeletal syndrome"],"definition":"Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93262/","orphanet_url":"https://www.orpha.net/en/disease/detail/93262","names":{"fr":{"name":"Syndrome de Crouzon-acanthosis nigricans","definition":"Forme rare, cliniquement hétérogène, de faciocraniosténose présentant des caractéristiques semblables à celles de la maladie de Crouzon et une synostose prématurée des sutures crâniennes, associée à un acanthosis nigricans."},"de":{"name":"Crouzon-Syndrom-Acanthosis nigricans-Syndrom","definition":"Das Crouzon-Syndrom mit Acanthosis nigricans (CAN) ist eine sehr seltene, klinisch heterogene Form der Faziokraniostenose mit Crouzon-ähnlichen Merkmalen und vorzeitiger Synostose der Schädelnähte (Crouzon-Krankheit, siehe diesen Begriff), verbunden mit Acanthosis nigricans (AN; siehe diesen Begriff)."},"es":{"name":"Síndrome de Crouzon con acantosis nigricans","synonyms":["Síndrome dermoesquelético de Crouzon"],"definition":"El síndrome de Crouzon con acantosis nigricans (CAN) es una forma muy rara de faciocranioestenosis. Su presentación clínica es variable y consiste en rasgos tipo-Crouzon y sinostosis prematura de las suturas craneales (enfermedad de Crouzon, consulte este término), asociado con acantosis nigricans (AN; consulte este término)."},"it":{"name":"Sindrome di Crouzon - acanthosis nigricans","synonyms":["Sindrome dermoscheletrica di Crouzon"],"definition":"La sindrome di Crouzon con acanthosis nigricans (CAN) è una forma molto rara, clinicamente eterogenea, della faciocraniostenosi correlata ai segni della sindrome di Crouzon e della sinostosi prematura delle suture craniche (malattia di Crouzon; si veda questo termine), in associazione con l'acanthosis nigricans (AN; si veda questo termine)."},"nl":{"name":"Crouzonsyndroom - acanthosis nigricans","synonyms":["Crouzono-dermoskeletaal syndroom"],"definition":"Crouzonsyndroom met acanthosis nigricans (CAN) is een zeer zeldzame, klinisch heterogene vorm van faciocraniostenose met Crouzonachtige kenmerken en premature synostose van schedelnaden (ziekte van Crouzon, zie deze term), geassocieerd met acanthosis nigricans (AN; zie deze term)."},"pt":{"name":"Síndrome Crouzon-acantose nigricans","synonyms":["Síndrome dermoesquelético Crouzon"],"definition":"Cinco por cento dos doentes com síndrome de Crouzon (ver este termo) têm acantose nigricans (ver este termo), geralmente presente após o nascimento. Diz-se terem síndrome de Crouzon com acantose nigricans (AN; ver este termo)."},"pl":{"name":"Zespół Crouzona - rogowacenie ciemne","synonyms":["Zespół Crouzona z anomaliami skórno-kostymi"]},"cs":{"name":"Crouzonův syndrom s acanthosis nigricans","synonyms":["Crouzonův dermoskeletální syndrom"]},"uk":{"name":"Синдром Крузона з чорним акантозом","synonyms":["Дермато-скелетний синдром Крузона"],"definition":"Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term)."},"zh":{"name":"克鲁宗综合征-黑棘皮病综合征","synonyms":["Crouzon-皮肤瘢痕综合征"],"definition":"伴有黑棘皮病（CAN）的Crouzon综合征是一种非常罕见的临床异质性面部颅骨狭窄，具有Crouzon样特征和颅缝早闭（Crouzon病，见该词条），与黑棘皮病（AN；见该词条）相关。"},"tr":{"name":"Crouzon sendromu-akantozis nigrikans sendromu","synonyms":["Crouzon-dermoskeletal sendrom"]}},"xrefs":[{"source":"OMIM","code":"612247","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q75.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.GY","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"549448576"},{"source":"MONDO","code":"0012833","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567382","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2677099","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98684,"name":"Craniostenosis with strabismus","classifications":[156,189]},{"orpha":139393,"name":"Syndromic craniosynostosis","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":"20301628[PMID]","hgnc":"3690","ensembl":"ENSG00000068078","omim":"134934","loci":["4p16.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Worldwide","status":"Validated","source":"23986840[PMID]_ISBN:019511843X[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002308","label":"Chiari malformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100533","label":"Inflammatory abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000262","label":"Turricephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005107","label":"Abnormal sacrum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}