{"orpha":85184,"name":"Craniometadiaphyseal dysplasia, wormian bone type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85184/","orphanet_url":"https://www.orpha.net/en/disease/detail/85184","names":{"fr":{"name":"Dysplasie cranio-métadiaphysaire type os wormien","definition":"Syndrome extrêmement rare de dysplasie osseuse craniotubulaire décrit chez moins de 10&nbsp;patients à ce jour. Les signes cliniques comprennent une macrocéphalie, un front proéminent, une hypoplasie malaire, une mandibule proéminente et une hypoplasie dentaire. Les autres anomalies affectent le squelette, il s'agit des anomalies du remodelage des os tubulaires, de multiples os wormiens et des déformations du thorax, du bassin et des coudes. Un risque accru de fractures est observé chez ces patients."},"de":{"name":"Dysplasie, kraniometadiaphysäre, Schaltknochen-Typ"},"es":{"name":"Displasia craneometadiafisaria, tipo hueso wormiano","definition":"Es una displasia ósea craneotubular extremadamente poco frecuente descrita en menos de 10 pacientes hasta la fecha. Las manifestaciones clínicas incluyen macrocefalia, frente prominente, hipoplasia malar y dental y mandíbula prominente. Otras anomalías esqueléticas incluyen modelado óseo anómalo de los huesos tubulares, múltiples huesos wormianos y malformaciones del tórax, pelvis y codos. En estos pacientes se observa un mayor riesgo de fracturas."},"it":{"name":"Displasia craniometafisaria, tipo con ossa wormiane","definition":"La displasia craniometadiafisaria tipo ossa wormiane è una sindrome da displasia ossea cranio-tubolare molto rara, descritta in meno di 10 casi. I segni clinici comprendono la macrocefalia, la fronte bombata, l'ipoplasia malare, la mandibola prominente e l'ipoplasia dei denti. Altre anomalie dello scheletro riguardano le anomalie del rimodellamento delle ossa tubolari, la presenza di ossa wormiane multiple e le deformità del torace, del bacino e dei gomiti. È aumentato il rischio di fratture."},"nl":{"name":"Craniometadiafysaire dysplasie, Wormiaans bot-type","definition":"Craniometadiafysaire dysplasie, Wormiaans bot-type is een uiterst zeldzaam syndroom met craniotubulaire botdysplasie dat tot op heden in minder dan 10 patiënten werd beschreven. Klinische manifestaties zijn onder meer macrocefalie, boller voorhoofd, hypoplasie van de jukbeenderen, uitgesproken onderkaak en tandhypoplasie. Andere skeletanomalieën omvatten abnormale botmodellering in pijpbeenderen, multipele Wormiaanse botstructuren, en misvormingen van de borstkas, het bekken en de ellebogen. Er wordt een verhoogd risico op fracturen opgemerkt."},"pt":{"name":"Displasia craniometadiafisária, tipo ossos wormianos"},"pl":{"name":"Dysplazja czaszkowo-przynasadowa, typ kostek Worma"},"cs":{"name":"Kraniometadiafyzární dysplázie, typ s wormiánskými kůstkami"},"uk":{"name":"Краніометадіафізарна дисплазія, червоподібний тип кісток","definition":"Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted."},"zh":{"name":"颅骨骨板发育不良，虫蚀型"},"tr":{"name":"Kraniyometadiyafizer displazi, wormian kemik tipi"}},"xrefs":[{"source":"OMIM","code":"269300","qualifier":"E","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":"1055011248"},{"source":"MONDO","code":"0010014","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510809","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93444,"name":"Primary bone dysplasia with increased bone density","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"20684007[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20684007[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-05-17","source":"9605592[PMID]","terms":[{"hpo":"HP:0000940","label":"Abnormal diaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009911","label":"Abnormal temporal bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002703","label":"Abnormality of skull ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006429","label":"Broad femoral neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000885","label":"Broad ribs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002673","label":"Coxa valga","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002212","label":"Curly hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011001","label":"Increased bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005446","label":"Obtuse angle of mandible","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006391","label":"Overtubulated long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000242","label":"Parietal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001248","label":"Short tubular bones of the hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002753","label":"Thin bony cortex","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010539","label":"Thin calvarium","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008438","label":"Vertebral arch anomaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000260","label":"Wide anterior fontanel","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002645","label":"Wormian bones","frequency":"Very frequent (99-80%)","criteria":null}]}}