{"orpha":1777,"name":"Temtamy syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome","Temtamy-Shalash syndrome"],"definition":"A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1777/","orphanet_url":"https://www.orpha.net/en/disease/detail/1777","names":{"fr":{"name":"Syndrome de Temtamy","synonyms":["Syndrome de Temtamy-Shalash","Syndrome de dysmorphie craniofaciale-colobome-agénésie du corps calleux"],"definition":"Anomalie neurologique congénitale rare d'origine génétique caractérisée par une agénésie ou une hypoplasie du corps calleux associée à des anomalies de développement, des anomalies oculaires et différentes anomalies craniofaciales et squelettiques."},"de":{"name":"Temtamy-Syndrom","synonyms":["Kraniofaziale Dysmorphien - Kolobome - Corpus-callosum-Agenesie","Temtamy-Shalash-Syndrom"],"definition":"Eine sehr seltene genetisch bedingte neurologische Störung, die durch eine charakteristische Assoziation von Agenesie/Hypoplasie des Corpus callosum mit Entwicklungsanomalien, Augenstörungen und variablen kraniofazialen und skelettalen Anomalien gekennzeichnet ist."},"es":{"name":"Síndrome de Temtamy","synonyms":["Dismorfia craneofacial-coloboma-agenesia del cuerpo calloso","Síndrome de Temtamy-Shalash"],"definition":"Es un trastorno neurológico congénito, de base genética y muy poco frecuente, caracterizado por agenesia/hipoplasia del cuerpo calloso con trastornos del desarrollo, trastornos oculares y anomalías craneofaciales y esqueléticas variables."},"it":{"name":"Sindrome di Temtamy","synonyms":["Dismorfismi craniofacciali - coloboma - agenesia del corpo calloso","Sindrome di Temtamy-Shalash"],"definition":"Si tratta di una malattia neurologica congenita molto rara di origine genetica, caratterizzata dall'agenesia/ipoplasia del corpo calloso, associata ad anomalie dello sviluppo, malattie oculari e anomalie craniofacciali e scheletriche di gravità variabile."},"nl":{"name":"Syndroom van Temtamy","synonyms":["Craniofaciale dysmorfie - coloboom - agenesie van corpus callosum-syndroom","Craniofaciale dysmorfie - coloboom - ontbrekende hersenbalk-syndroom","Syndroom van Temtamy-Shalash"],"definition":"Een zeer zeldzame, congenitale, genetische neurologische aandoening, gekarakteriseerd door agenesie/hypoplasie van corpus callosum met ontwikkelingsanomalieën, oculaire aandoeningen, en variabele craniofaciale en skeletale afwijkingen."},"pt":{"name":"Síndrome Temtamy","synonyms":["Dismorfia craniofacial-coloboma-agenesia do corpo caloso","Síndrome Temtamy-Shalash"]},"pl":{"name":"Zespół Temtamy","synonyms":["Dysmorfia czaszkowo-twarzowa - coloboma - agnezja ciała modzelowatego","Zespół Temtamy i Shalash"]},"cs":{"name":"Temtamy syndrom","synonyms":["Syndrom zahrnující kraniofaciální dysmorfismus, kolobom a agenezi corpus callosum","Temtamyové-Shalashův syndrom","Temtamy-Shalashův syndrom"]},"uk":{"name":"Синдром Темтамі","synonyms":["Синдром черепно-лицевого дизморфізму-колобоми-генезису мозолистого тіла","Синдром Темтамі-Шалаша"],"definition":"A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities."},"zh":{"name":"Temtamy综合征","synonyms":["颅面畸形-眼部缺损-胼胝体发育不全综合征"]},"tr":{"name":"Temtamy sendromu","synonyms":["Temtamy-Shalash sendromu","Kraniyofasiyal dismorfizm-koloboma-korpus kallozum agenezisi sendromu"]}},"xrefs":[{"source":"OMIM","code":"218340","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009033","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536959","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857512","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5688","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":269573,"name":"Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":199639,"name":"Syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[147,181]}],"children":[],"genes":[{"symbol":"C12ORF57","name":"chromosome 12 open reading frame 57","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23453665[PMID]_23453666[PMID]","hgnc":"29521","ensembl":"ENSG00000111678","omim":"615140","loci":["12p13.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":56.0,"area":"Worldwide","status":"Validated","source":"24798461[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24798461[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000567","label":"Chorioretinal coloboma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004942","label":"Aortic aneurysm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Occasional (29-5%)","criteria":null}]}}