{"orpha":1358,"name":"Carey-Fineman-Ziter syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Myopathy-Moebius-Robin syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by non-specific or central hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), congenital myopathy, developmental delay and failure to thrive. Intellectual disability have also been reported in some patients. Variable clinical features may include macro/micro or plagiacephaly, facial dysmorphism, brain anomalies, septal defects, respiratory insufficiency, gastrointestinal problems including poor/absent swallowing, joint contactures, tapering fingers, clubfoot and scoliosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1358/","orphanet_url":"https://www.orpha.net/en/disease/detail/1358","names":{"fr":{"name":"Syndrome de Carey-Fineman-Ziter","synonyms":["Syndrome de myopathie-séquence de Moebius-séquence de Robin"],"definition":"Le syndrome de Carey-Fineman-Ziter (CFZ) est une maladie rare caractérisée par l'association d'une hypotonie, d'une séquence de Moebius (paralysie faciale bilatérale congénitale avec déficience de l'abduction oculaire), d'une séquence de Pierre Robin (micrognathie, glossoptose et palais voûté ou fendu), d'un visage caractéristique et d'un retard de croissance."},"de":{"name":"Carey-Fineman-Ziter-Syndrom","synonyms":["Myopathie-Moebius-Robin-Syndrom"],"definition":"Das Carey-Fineman-Ziter (CFZ)-Syndrom ist eine seltene Assoziation von Muskelhypotonie, Moebius-Sequenz (beidseitige kongenitale Fazialis-Parese mit gestörter Fähigkeit zur Abduktion der Augäpfel), Pierre-Robin-Sequenz (Mikrogenie, Glossoptose, hoher Gaumen oder Gaumenspalte), auffälligem Gesicht und Wachstumsverzögerung."},"es":{"name":"Síndrome de Carey-Fineman-Ziter","synonyms":["Miopatía-síndrome de Moebius-Robin"],"definition":"El síndrome de Carey-Fineman-Ziter (CFZ) es una enfermedad rara, caracterizada por la asociación de hipotonía, secuencia de Moebius (parálisis facial VIIº par bilateral congénita con afectación del VIº par abductor ocular), secuencia de Pierre-Robin (micrognatia, glosoptosis, y elevado encurvamiento o hendidura del paladar), facies inusual y retraso del crecimiento."},"it":{"name":"Sindrome di Carey-Fineman-Ziter","synonyms":["Miopatia - sequenza di Moebius - sequenza di Robin"]},"nl":{"name":"Syndroom van Carey-Fineman-Ziter","synonyms":["Myopathie - Moebius - Robin-syndroom","Myopathie - Möbius - Robin-syndroom","Syndroom van myopathie met Moebius- en Robin-sequentie","Syndroom van myopathie met Möbius- en Robin-sequentie"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door aspecifieke of centrale hypotonie, Moebius-sequentie (bilaterale congenitale aangezichtsverlamming met verstoorde abductie van oog), sequentie van Pierre-Robin (micrognathie, glossoptose, en hoog gebogen of gespleten gehemelte), congenitale myopathie, ontwikkelingsachterstand en niet-gedijen. Bij sommige patiënten werd ook intellectuele achterstand gerapporteerd. Mogelijke variabele klinische kenmerken zijn onder meer macro-/micro- of plagiocefalie, faciale dysmorfie, hersenanomalieën, septumdefecten, respiratoire insufficiëntie, gastro-intestinale problemen waaronder slechte/afwezige slikreflex, gewrichtscontracturen, taps toelopende vingers, klompvoet en scoliose."},"pt":{"name":"Síndrome Carey-Fineman-Ziter","synonyms":["Síndrome de miopatia-Moebius-Robin"]},"pl":{"name":"Zespół Carey'ego, Finemana i Zitera","synonyms":["Zespół miopatia - Moebius - Robin"]},"cs":{"name":"Careyův-Finemanův-Ziterův syndrom","synonyms":["Moebiův-Robinův syndrom s myopatií","Carey-Fineman-Ziterův syndrom","Moebius-Robinův syndrom s myopatií"]},"uk":{"name":"Синдром Кері-Файнмана-Зітера","synonyms":["Синдром міопатії-Мебіуса-Робіна"],"definition":"Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay."},"zh":{"name":"Carey-Fineman-Ziter综合征","synonyms":["肌病-Moebius-Robin综合征"]},"tr":{"name":"Carey-Fineman-Ziter sendromu","synonyms":["Miyopati-Moebius-Robin sendromu"]}},"xrefs":[{"source":"OMIM","code":"254940","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"619941","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1784462638"},{"source":"MONDO","code":"0031415","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536102","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850746","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3889","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":97245,"name":"Congenital myopathy","classifications":[156,181]},{"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]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]}],"children":[],"genes":[{"symbol":"MYMX","name":"myomixer, myoblast fusion factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"35642635[PMID]","hgnc":"52391","ensembl":"ENSG00000262179","omim":"619912","loci":["6p21.1"]},{"symbol":"MYMK","name":"myomaker, myoblast fusion factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28681861[PMID]","hgnc":"33778","ensembl":"ENSG00000187616","omim":"615345","loci":["9q34.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"27232676[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27232676[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010295","label":"Aplasia/Hypoplasia of the tongue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000634","label":"Impaired ocular abduction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000201","label":"Pierre-Robin sequence","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000162","label":"Glossoptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001600","label":"Abnormality of the larynx","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009751","label":"Aplasia of the pectoralis major muscle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000807","label":"Glandular hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100735","label":"Hypertensive crisis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001602","label":"Laryngeal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009465","label":"Ulnar deviation of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}