{"orpha":137834,"name":"Frank-Ter Haar syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Ter Haar syndrome"],"definition":"A rare primary bone dysplasia characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-137834/","orphanet_url":"https://www.orpha.net/en/disease/detail/137834","names":{"fr":{"name":"Syndrome de Frank-Ter Haar","synonyms":["Syndrome de Ter Haar"],"definition":"Dysplasie osseuse primaire rare caractérisée par des mégalocornées, des anomalies squelettiques multiples, une dysmorphie faciale caractéristique (fontanelles larges, front proéminent, hypertélorisme, yeux proéminents, joues pleines et micrognathie) et un retard du développement."},"de":{"name":"Frank-ter Haar-Syndrom","definition":"Eine seltene primäre Knochendysplasie, die definiert ist durch das gemeinsame Auftreten von Megalokornea, multiplen Skelettanomalien, charakteristischen fazialen Dysmorphien (weite Fontanellen, prominente Stirn, Hypertelorismus, vorstehende Augen, volle Wangen, Mikrogenie) und verzögerte Entwicklung."},"es":{"name":"Síndrome de Frank-Ter Haar","synonyms":["Síndrome de Ter Haar"],"definition":"Es una displasia ósea primaria poco frecuente caracterizada por megalocórnea, anomalías esqueléticas múltiples, dismorfia facial característica (fontanelas anchas, frente prominente, hipertelorismo, ojos prominentes, mejillas llenas y micrognatia) y retraso del desarrollo."},"it":{"name":"Sindrome di Frank-Ter Haar","synonyms":["Sindrome di Ter Haar"],"definition":"Si tratta di una displasia scheletrica primitiva rara, caratterizzata da megalocornea, anomalie scheletriche multiple, dismorfismi facciali caratteristici (fontanelle ampie, fronte prominente, ipertelorismo, occhi prominenti, guance paffute e micrognazia) e ritardo dello sviluppo."},"nl":{"name":"Syndroom van Frank-Ter Haar","synonyms":["Syndroom van Ter Haar"],"definition":"Een zeldzame primaire botdysplasie gekarakteriseerd door megalocornea, multipele skeletanomalieën, kenmerkende faciale dysmorfie (brede fontanellen, prominent voorhoofd, hypertelorisme, prominente ogen, volle wangen en micrognathie) en ontwikkelingsachterstand."},"pt":{"name":"Síndrome Frank-Ter Haar","synonyms":["Síndrome Ter Haar"],"definition":"Displasia óssea primária rara caracterizada por megalocórnea, múltiplas anomalias esqueléticas, dismorfismo facial característico (fontanelas largas, testa proeminente, hipertelorismo, olhos proeminentes, bochechas cheias e micrognatia) e atraso no desenvolvimento."},"pl":{"name":"Zespół Franka i Ter Haara","synonyms":["Zespół Ter Haara"]},"cs":{"name":"Frankův-ter Haarův syndrom","synonyms":["Ter Haarův syndrom","Frank-ter Haarův syndrom"]},"uk":{"name":"Синдром Франка-Тер Хаара","synonyms":["Синдром Тер Хаара"],"definition":"A rare primary bone dysplasia characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay."},"zh":{"name":"Frank-Ter Haar综合征","synonyms":["Ter Haar综合征"],"definition":"一种罕见的原发性骨发育不良，其特征是巨角膜，多发性骨骼异常，特征性面部畸形（宽囟门、前额突出、眼距过宽、眼睛突出、面颊饱满和小颌畸形）和发育迟缓。"},"tr":{"name":"Frank-Ter Haar sendromu","synonyms":["Ter Haar sendromu"]}},"xrefs":[{"source":"OMIM","code":"249420","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD25.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1643548765"},{"source":"MONDO","code":"0009579","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537274","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855305","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5138","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":1266,"name":"Dermato-cardio-skeletal syndrome, Borrone type","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":364541,"name":"Otopalatodigital syndrome spectrum disorder","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"SH3PXD2B","name":"SH3 and PX domains 2B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20137777[PMID]","hgnc":"29242","ensembl":"ENSG00000174705","omim":"613293","loci":["5q35.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"22037860[PMID]_23140272[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22037860[PMID]_23140272[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001061","label":"Acne","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010885","label":"Avascular necrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","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:0001634","label":"Mitral valve prolapse","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004568","label":"Beaking of vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002816","label":"Genu recurvatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006480","label":"Premature loss of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null}]}}