{"orpha":444072,"name":"Cerebellar-facial-dental syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Cerebellofaciodental syndrome"],"definition":"A rare, autosomal recessive, multiple congenital anomalies/dysmorphic syndrome characterized mainly by developmental delay, variable intellectual disability, microcephaly, cerebellar hypoplasia, dysmorphic features (central incisors macrodontia and slender fingers), short stature and variable congenital anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-444072/","orphanet_url":"https://www.orpha.net/en/disease/detail/444072","names":{"fr":{"name":"Syndrome cérébellofaciodentaire","definition":"Anomalies congénitales multiples/syndrome dysmorphique rare autosomique récessif, principalement caractérisé par un retard de développement, une déficience intellectuelle de degré variable, une microcéphalie, une hypoplasie cérébelleuse, une dysmorphie (macrodontie des incisives centrales et doigts fins), une petite taille et des anomalies congénitales inconstantes."},"de":{"name":"Zerebello-fazio-dentales Syndrom","definition":"Ein autosomal-rezessiv vererbtes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das vor allem durch Entwicklungsverzögerung, variable Formen der Intelligenzminderung, Mikrozephalie, Kleinhirnhypoplasie, dysmorphe Merkmale (Makrodontie der zentralen Schneidezähne und schmale Finger), Kleinwuchs und variable kongenitale Anomalien gekennzeichnet ist."},"es":{"name":"Síndrome cerebeloso-facial-dental","synonyms":["Síndrome cerebelofaciodental"],"definition":"Es un síndrome dismórfico/de múltiples anomalías congénitas, autosómico recesivo, poco frecuente, caracterizado principalmente por retraso psicomotor, discapacidad intelectual variable, microcefalia, hipoplasia cerebelosa, rasgos dismórficos (macrodoncia de los incisivos centrales y dedos delgados), talla baja y anomalías congénitas variables."},"it":{"name":"Sindrome cerebello-facio-dentale","synonyms":["Sindrome cerebellofaciodentale"],"definition":"Si tratta di una malattia rara da anomalie/dismorfismi congeniti multipli, a trasmissione autosomica recessiva, caratterizzata per lo più da ritardo dello sviluppo, disabilità intellettiva variabile, microcefalia, ipoplasia cerebellare, dismorfismi (macrodontia degli incisivi centrali e dita sottili), bassa statura e anomalie congenite variabili."},"nl":{"name":"Cerebellair-faciaal-dentaal syndroom","synonyms":["Cerebello-facio-dentaal syndroom"],"definition":"Een zeldzaam, autosomaal recessief syndroom met multipele congenitale anomalieën/dysmorfie, hoofdzakelijk gekarakteriseerd door ontwikkelingsachterstand, variabele intellectuele achterstand, microcefalie, cerebellaire hypoplasie, dysmorfe kenmerken (macrodontie van centrale snijtanden en slanke vingers), kleine gestalte, en variabele congenitale anomalieën."},"pt":{"name":"Síndrome cerebeloso-facial-dentária","synonyms":["Síndrome cerebelo-facio-dentária"]},"pl":{"name":"Zespół móżdżkowo-twarzowo-zębowy","synonyms":["Cerebellofaciodental syndrome"]},"cs":{"name":"Cerebelofaciodentální syndrom","synonyms":["Cerebelární-faciální-dentální syndrom"]},"uk":{"name":"Мозочково-лицево-зубний синдром","synonyms":["Мозочково-лицьовий синдром"],"definition":"A rare, autosomal recessive, multiple congenital anomalies/dysmorphic syndrome characterized mainly by developmental delay, variable intellectual disability, microcephaly, cerebellar hypoplasia, dysmorphic features (central incisors macrodontia and slender fingers), short stature and variable congenital anomalies."},"zh":{"name":"小脑面齿综合征","synonyms":["小脑面齿综合征"]},"tr":{"name":"Serebellar-yüz-diş sendromu","synonyms":["Serebellofasiyodental sendrom"]}},"xrefs":[{"source":"OMIM","code":"616202","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014529","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4015495","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":269567,"name":"Genetic syndrome with a cerebellar malformation as a major feature","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":420755,"name":"Rare genetic odontal or periodontal disorder","classifications":[156]},{"orpha":164001,"name":"Rare odontal or periodontal disorder","classifications":[197]},{"orpha":269523,"name":"Syndrome with a cerebellar malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[{"symbol":"BRF1","name":"BRF1 general transcription factor IIIB subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25561519[PMID]","hgnc":"11551","ensembl":"ENSG00000185024","omim":"604902","loci":["14q32.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"25561519[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25561519[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-12-06","source":"25561519[PMID]_27748960[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000675","label":"Macrodontia of permanent maxillary central incisor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000679","label":"Taurodontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009085","label":"Alveolar ridge overgrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002280","label":"Enlarged cisterna magna","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006511","label":"Laryngeal stridor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005135","label":"Abnormal T-wave","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002418","label":"Abnormality of midbrain morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004970","label":"Ascending tubular aorta aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008366","label":"Foot joint contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002365","label":"Hypoplasia of the brainstem","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012110","label":"Hypoplasia of the pons","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011406","label":"Infancy onset short-trunk short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007068","label":"Inferior vermis hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002509","label":"Limb hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006970","label":"Periventricular leukomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007835","label":"S-shaped palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003100","label":"Slender long bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000074","label":"Ureteropelvic junction obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}