{"orpha":2097,"name":"Grant syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2097/","orphanet_url":"https://www.orpha.net/en/disease/detail/2097","names":{"fr":{"name":"Syndrome de Grant","definition":"Maladie rare de type ostéogenèse imparfaite, décrite à ce jour chez 2 patients, caractérisée sur le plan clinique par la persistance d'os wormiens, par des sclérotiques bleues, une hypoplasie mandibulaire, une cavité glénoïde peu profonde et une campomélie. Aucun nouveau cas n'a été décrit dans la littérature depuis 1986."},"de":{"name":"Grant-Syndrom"},"es":{"name":"Síndrome de Grant","definition":"Es un trastorno poco frecuente similar a la osteogénesis imperfecta descrito en dos pacientes hasta la fecha y caracterizado clínicamente por huesos wormianos persistentes, esclerótica azul, hipoplasia mandibular, cavidad glenoidea poco profunda y campomelia. No se han descrito nuevos casos en la literatura desde 1986."},"it":{"name":"Sindrome di Grant","definition":"La sindrome di Grant è una malattia rara simile all'osteogenesi imperfetta, descritta in due pazienti che presentavano ossa wormiane persistenti, sclere blu, ipoplasia mandibolare, appiattimento della fossa glenoidea e campomelia. Gli ultimi casi descritti risalgono al 1986."},"nl":{"name":"Syndroom van Grant","definition":"Syndroom van Grant is een zeldzame osteogenesis imperfecta-achtige aandoening die tot op heden werd beschreven bij twee patiënten, en die klinisch gekarakteriseerd wordt door persistente Wormiaanse botstructuren, blauwe sclera (oogwit), hypoplasie van de onderkaak, ondiepe glenoïde holte, en campomelie. Sinds 1986 zijn er geen bijkomende beschrijvingen te vinden in de literatuur."},"pt":{"name":"Síndrome Grant"},"pl":{"name":"Zespół Granta"},"cs":{"name":"Grantův syndrom"},"uk":{"name":"Синдром Гранта","definition":"Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986."},"zh":{"name":"Grant综合征"},"tr":{"name":"Grant sendromu"}},"xrefs":[{"source":"OMIM","code":"138930","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.KY","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1320218486"},{"source":"MONDO","code":"0007683","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537293","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1841835","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2559","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"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":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"3742858[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3742858[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003103","label":"Abnormal cortical bone morphology","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:0004331","label":"Decreased skull ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002645","label":"Wormian bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002644","label":"Abnormality of pelvic girdle bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011912","label":"Abnormality of the glenoid fossa","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100729","label":"Large face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010807","label":"Open bite","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001024","label":"Skin dimple over apex of long bone angulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000912","label":"Sprengel anomaly","frequency":"Frequent (79-30%)","criteria":null}]}}