{"orpha":168624,"name":"Familial scaphocephaly syndrome, McGillivray type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome"],"definition":"Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-168624/","orphanet_url":"https://www.orpha.net/en/disease/detail/168624","names":{"fr":{"name":"Scaphocéphalie familiale type McGillivray","synonyms":["Syndrome de scaphocéphalie-macrocéphalie-rétrusion maxillaire-déficience intellectuelle"],"definition":"La scaphocéphalie familiale type McGillivray est une rare crâniosynostose de description récente et caractérisée par une scaphocéphalie, une macrocéphalie, une rétrusion maxillaire sévère et un retard intellectuel."},"de":{"name":"Skaphozephalie-Syndrom, familiäres, Typ McGillivray","synonyms":["Skaphokephalie - Makrozephalie - Oberkieferretrusion - Intelligenzminderung","Skaphozephalie-Makrozephalie-Maxillarretrusion-Intelligenzminderung-Syndrom"],"definition":"Das familiäre Skaphozephalie-Syndrom, Typ McGillivray ist ein kürzlich beschriebenes Kraniosynostose-Syndrom mit Skaphozephalie, Makrozephalie, schwerer maxillärer Retrusion und leichter intellektueller Behinderung. x"},"es":{"name":"Síndrome de escafocefalia familiar tipo McGillivray","synonyms":["Síndrome de escafocefalia-macrocefalia-retrusión maxilar-discapacidad intelectual"],"definition":"El síndrome de escafocefalia familiar tipo McGillivray, recientemente descrito, es una rara craneosinostosis (véase este término) caracterizada por escafocefalia, macrocefalia, retrusión maxilar grave y un retraso intelectual leve."},"it":{"name":"Sindrome da scafocefalia familiare, tipo McGillivray","synonyms":["Sindrome scafocefalia-macrocefalia-retrusione mandibolare-disabilità intellettiva"],"definition":"La sindrome da scafocefalia familiare tipo McGillivray è una rara craniosinostosi (si veda questo termine), descritta di recente, caratterizzata da scafocefalia, macrocefalia, grave retrusione mascellare e lieve deficit cognitivo"},"nl":{"name":"Familiale scafocefalie-syndroom, McGillivray-type","synonyms":["Scafocefalie - macrocefalie - maxillaire retrusie - intellectuele achterstand-syndroom"],"definition":"Een zeldzaam syndroom van craniosynostose, gekenmerkt door scafocefalie, macrocefalie, ernstige retrusie van maxilla, en milde intellectuele achterstand."},"pt":{"name":"Síndrome de escafocefalia familiar, tipo McGillivray","synonyms":["Síndrome de escafocefalia-macrocefalia-retrusão maxilar-perturbação do desenvolvimento intelectual"],"definition":"A síndrome de escafocefalia familiar, tipo McGillivray é uma síndrome rara de craniossinostose (ver este termo) recentemente descrita, caracterizada por escafocefalia, macrocefalia, retrusão maxilar grave e défice cognitivo ligeiro."},"pl":{"name":"Rodzinny zespół skafocefalii, typ McGillivray'a","synonyms":["Skafocefalia - makrocefalia - retruzja szczęki - niepełnosprawność intelektualna"]},"cs":{"name":"Familiární skafocefalie, McGillivrayův typ","synonyms":["Syndrom zahrnující skafocefalii, makrocefalii, maxilární retruzi a mentální retardaci"]},"uk":{"name":"Сімейний синдром скафоцефалії, тип МакГіліврея","synonyms":["Синдром скафоцефалії-макроцефалії-максицефалії-щелепної ретрузії- інтелектуальної недостатності"],"definition":"Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability."},"zh":{"name":"McGillivray型家族性舟状头综合征","synonyms":["舟状头-大头-上颌后缩-智力障碍综合征"],"definition":"McGillivray型家族性舟状头畸形综合征是一种罕见的新型颅缝早闭（见该术语）综合征，其主要临床表现为舟状头畸形、巨颅畸形、严重上颌后缩和轻度智力障碍。"},"tr":{"name":"Ailesel sikafosefali sendromu, McGillivray tipi","synonyms":["Sikafosefali-makrosefali-maksiller retrüzyon-zihinsel yetersizlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"609579","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.GY","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"512057922"},{"source":"MONDO","code":"0012307","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510730","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3426","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":169163,"name":"Familial scaphocephaly syndrome","classifications":[147,156,199]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"FGFR2","name":"fibroblast growth factor receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16061565[PMID]","hgnc":"3689","ensembl":"ENSG00000066468","omim":"176943","loci":["10q26.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"16061565[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16061565[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010807","label":"Open bite","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010059","label":"Broad hallux phalanx","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000243","label":"Trigonocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}