{"orpha":2050,"name":"Cole-Carpenter syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome"],"definition":"An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2050/","orphanet_url":"https://www.orpha.net/en/disease/detail/2050","names":{"fr":{"name":"Syndrome de Cole-Carpenter","synonyms":["Syndrome de fragilité osseuse-craniosynostose-proptose-hydrocéphalie"],"definition":"Le syndrome de Cole-Carpenter est une forme extrêmement rare de dysplasie osseuse caractérisée par des signes d'ostéogenèse imparfaite, telle qu'une fragilité osseuse associée à de multiples fractures, des déformations osseuses (irrégularités métaphysaires et courbure des os longs), et des sclérotiques bleutées, ainsi qu'un retard de croissance, une craniosynostose, une hydrocéphalie, une proptose oculaire et une dysmorphie faciale (par ex. une bosse frontale, une hypoplasie de l'étage moyen du visage et une micrognathie)."},"de":{"name":"Cole-Carpenter-Syndrom","synonyms":["Knochenfragilität - Kraniosynostose - Proptosis - Hydrozephalus"]},"es":{"name":"Síndrome de Cole-Carpenter","synonyms":["Frágilidad ósea - craneosinostosis - proptosis - hidrocéfalo","Frágilidad ósea-craneosinostosis-proptosis-hidrocéfalo"],"definition":"Es una forma muy poco frecuente de displasia ósea caracterizada por rasgos de la osteogénesis imperfecta, tales como fragilidad ósea asociada a múltiples fracturas, deformidades óseas (irregularidades metafisarias y arqueamiento de los huesos largos) y esclerótica azul junto con un retraso del crecimiento, craneosinostosis, hidrocefalia, proptosis ocular y rasgos faciales distintivos (p. ej. frente prominente, hipoplasia facial media y micrognatia)."},"it":{"name":"Sindrome di Cole-Carpenter","synonyms":["Fragilità ossea - craniosinostosi - proptosi - idrocefalo"],"definition":"La sindrome di Cole-Carpenter è una forma molto rara di displasia scheletrica caratterizzata dai segni peculiari dell'osteogenesi imperfetta, compresa la fragilità delle ossa associata a fratture multiple, le deformità dello scheletro (anomalie delle metafisi, incurvatura delle ossa lunghe) e le sclere blu, associati a ritardo della crescita, craniosinostosi, idrocefalo, proptosi oculare e dimorfismi caratteristici (fronte bombata, ipoplasia medio-facciale e micrognatia)."},"nl":{"name":"Syndroom van Cole-Carpenter","synonyms":["Botfragiliteit - craniosynostose - proptose - hydrocefalus-syndroom"],"definition":"Een uiterst zeldzame vorm van botdysplasie, gekarakteriseerd door de kenmerken van osteogenesis imperfecta, zoals botfragiliteit geassocieerd met multipele fracturen, botmisvormingen (metafysaire afwijkingen en verkromming van pijpbeenderen) en blauw oogwit, geassocieerd met groeifalen, craniosynostose, hydrocefalie, oculaire proptosis, en typische gelaatskenmerken (e.g. boller voorhoofd, hypoplasie van middengezicht, en micrognathie)."},"pt":{"name":"Síndrome Cole-Carpenter","synonyms":["Síndrome de fragilidade óssea-craniossinostose-proptose-hidrocefalia"]},"pl":{"name":"Zespół Cole'a i Carpentera","synonyms":["Kruchość kości - kraniosynostoza - proptoza - wodogłowie"]},"cs":{"name":"Coleův-Carpenterův syndrom","synonyms":["Syndrom zahrnující kostní fragilitu, kraniosynostózu, proptózu a hydrocefalus","Cole-Carpenterův syndrom"]},"uk":{"name":"Синдром Коула-Карпентера","synonyms":["Крихкість кісток-краніосиностоз-проктоз-гідроцефальний синдром"],"definition":"An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia)."},"zh":{"name":"Cole-Carpenter综合征","synonyms":["脆性骨-颅缝早闭-突眼-脑积水综合征"]},"tr":{"name":"Cole-Carpenter sendromu","synonyms":["Kemik kırılganlığı-kraniyosinostoz-proptoz-hidrosefali sendromu"]}},"xrefs":[{"source":"OMIM","code":"112240","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"616294","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.KY","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1458793358"},{"source":"MONDO","code":"0016085","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535963","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1862178","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1425","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":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":93446,"name":"Primary bone dysplasia with decreased bone density","classifications":[147,156,199]},{"orpha":519296,"name":"Rare disorder with pigmented sclera","classifications":[156,189]}],"children":[],"genes":[{"symbol":"CRTAP","name":"cartilage associated protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30462379[PMID]","hgnc":"2379","ensembl":"ENSG00000170275","omim":"605497","loci":["3p22.3"]},{"symbol":"P4HB","name":"prolyl 4-hydroxylase subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25683117[PMID]","hgnc":"8548","ensembl":"ENSG00000185624","omim":"176790","loci":["17q25.3"]},{"symbol":"SEC24D","name":"SEC24 homolog D, COPII component","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25683121[PMID]","hgnc":"10706","ensembl":"ENSG00000150961","omim":"607186","loci":["4q26"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"25683117[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25683117[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006367","label":"Crumpled long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001334","label":"Communicating hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000262","label":"Turricephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002645","label":"Wormian bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null}]}}