{"orpha":207,"name":"Crouzon syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Crouzon craniofacial dysostosis"],"definition":"Crouzon disease is characterized by craniosynostosis and facial hypoplasia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-207/","orphanet_url":"https://www.orpha.net/en/disease/detail/207","names":{"fr":{"name":"Syndrome de Crouzon","synonyms":["Dysostose craniofaciale de Crouzon"],"definition":"Maladie caractérisée par une craniosynostose et une hypoplasie faciale."},"de":{"name":"Crouzon-Syndrom","synonyms":["Dysostose, kraniofaziale, Typ Crouzon","Dysostosis Craniofacialis Crouzon"],"definition":"Das Crouzon-Syndrom ist durch Kraniosynostose und faziale Hypoplasie gekennzeichnet."},"es":{"name":"Síndrome de Crouzon","synonyms":["Disostosis craneofacial de Crouzon"],"definition":"Es una enfermedad caracterizada por craneosinostosis e hipoplasia facial."},"it":{"name":"Malattia di Crouzon","synonyms":["Disostosi craniofacciale di Crouzon"]},"nl":{"name":"Syndroom van Crouzon","synonyms":["Craniofaciale dysostose van Crouzon"],"definition":"De ziekte van Crouzon wordt gekenmerkt door craniosynostose en hypoplasie van het gezicht."},"pt":{"name":"Síndrome Crouzon","synonyms":["Disostose cranio-facial Crouzon","Doença de Crouzon"]},"pl":{"name":"Choroba Crouzona","synonyms":["Dyzostoza czaszkowo-twarzowa Crouzona","Zespół Crouzona"],"definition":"Choroba Crouzona charakteryzuje się kraniosynostozą i hipoplazją twarzy."},"cs":{"name":"Crouzonův syndrom","synonyms":["Crouzonova kraniofaciální dysostóza"]},"uk":{"name":"Синдром Крузона","synonyms":["Краніофаціальний дизостоз Крузона"],"definition":"Crouzon disease is characterized by craniosynostosis and facial hypoplasia."},"zh":{"name":"遗传性家族性颅面骨畸形","synonyms":["Crouzon颅面骨骨发育不良"]},"tr":{"name":"Crouzon hastalığı","synonyms":["Crouzon kraniyofasiyal disostoz"]}},"xrefs":[{"source":"OMIM","code":"123500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q75.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD24.G1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1535725821"},{"source":"MONDO","code":"0007405","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0010273","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6206","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98650,"name":"Craniofacial anomaly with cataract","classifications":[156,189]},{"orpha":98684,"name":"Craniostenosis with strabismus","classifications":[156,189]},{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"FGFR2","name":"fibroblast growth factor receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"20301628[PMID]","hgnc":"3689","ensembl":"ENSG00000066468","omim":"176943","loci":["10q26.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.9,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET_EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.65,"area":"Canada","status":"Validated","source":"1633640[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.6,"area":"Australia","status":"Validated","source":"34626670[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000929","label":"Abnormal skull morphology","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:0011324","label":"Multiple suture craniosynostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002308","label":"Chiari malformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000509","label":"Conjunctivitis","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:0011800","label":"Midface retrusion","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:0005107","label":"Abnormal sacrum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000995","label":"Melanocytic nevus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011386","label":"Narrow internal auditory canal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000189","label":"Narrow palate","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}]}}