{"orpha":1522,"name":"Craniometaphyseal dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1522/","orphanet_url":"https://www.orpha.net/en/disease/detail/1522","names":{"fr":{"name":"Dysplasie cranio-métaphysaire","definition":"Une maladie génétique osseuse très rare caractérisée par une hyperostose diffuse progressive des os crâniens causant une dysmorphie faciale et des répercussions fonctionnelles, ainsi que par l'élargissement métaphysaire des os longs."},"de":{"name":"Dysplasie, kranio-metaphysäre"},"es":{"name":"Displasia craneometafisaria","definition":"Es una enfermedad ósea genética y muy poco frecuente caracterizada por hiperostosis difusa progresiva de los huesos craneales que produce dismorfia facial con repercusiones funcionales, así como por un ensanchamiento metafisario de los huesos largos."},"it":{"name":"Displasia craniometafisaria","definition":"La displasia craniometafisaria (CMD) è una malattia dello scheletro molto rara, di origine genetica, caratterizzata da iperostosi progressiva diffusa delle ossa del cranio, che esita in dismorfismi facciali, anomalie funzionali e nell'allargamento delle metafisi delle ossa lunghe."},"nl":{"name":"Craniometafysaire dysplasie","definition":"Craniometafysaire dysplasie (CMD) is een zeer zeldzame, genetische botziekte die gekarakteriseerd wordt door progressieve diffuse hyperostose van craniale beenderen, met faciale dysmorfie en functionele repercussies tot gevolg, en metafysaire verbreding van pijpbeenderen."},"pt":{"name":"Displasia cranio-metafisária","synonyms":["CMD"]},"pl":{"name":"Dysplazja czaszkowo-przynasadowa"},"cs":{"name":"Kraniometafyzární dysplázie"},"uk":{"name":"Краніометафізарна дисплазія","definition":"Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones."},"zh":{"name":"颅骨干骺端发育不全症"},"tr":{"name":"Kraniyometafizyal displazi"}},"xrefs":[{"source":"OMIM","code":"123000","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"218400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"305860050"},{"source":"MONDO","code":"0015465","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265292","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":98038,"name":"Cranial malformation","classifications":[147]},{"orpha":183542,"name":"Genetic cranial malformation","classifications":[156]},{"orpha":93444,"name":"Primary bone dysplasia with increased bone density","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"ANKH","name":"ANKH inorganic pyrophosphate transport regulator","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"21438135[PMID]_11326338[PMID]_11326272[PMID]","hgnc":"15492","ensembl":"ENSG00000154122","omim":"605145","loci":["5p15.2"]},{"symbol":"GJA1","name":"gap junction protein alpha 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23951358[PMID]","hgnc":"4274","ensembl":"ENSG00000152661","omim":"121014","loci":["6q22.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":160.0,"area":"Worldwide","status":"Validated","source":"ISBN:781730635[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_ISBN:0781730635[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004493","label":"Craniofacial hyperostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011002","label":"Osteopetrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001291","label":"Abnormal cranial nerve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}