{"orpha":2751,"name":"Orofaciodigital syndrome type 2","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Oral-facial-digital syndrome type 2","Mohr syndrome","OFD2"],"definition":"A rare developmental disorder in the ciliopathy group characterized by craniofacial, oral and digital features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2751/","orphanet_url":"https://www.orpha.net/en/disease/detail/2751","names":{"fr":{"name":"Syndrome oro-facio-digital type 2","synonyms":["OFD2","Syndrome de Mohr"],"definition":"Maladie rare du développement appartenant au groupe des ciliopathies, caractérisée par des anomalies craniofaciales, buccales et digitales."},"de":{"name":"Oro-fazio-digitales Syndrom Typ 2","synonyms":["Mohr-Syndrom","OFD2"],"definition":"Eine seltene Entwicklungsstörung aus der Gruppe der Ziliopathien, die durch kraniofaziale, orale und digitale Merkmale gekennzeichnet ist."},"es":{"name":"Síndrome orofaciodigital tipo 2","synonyms":["OFD2","Síndrome de Mohr"],"definition":"El síndrome orofaciodigital (OFD) tipo 2 se caracteriza por: malformaciones de manos y pies, malformaciones faciales, hendidura media del labio superior y hamartoma lingual."},"it":{"name":"Sindrome orofaciodigitale, tipo 2","synonyms":["OFD2","Sindrome di Mohr","Sindrome oro-facio-digitale, tipo 2"]},"nl":{"name":"Orofaciodigitaal syndroom type 2","synonyms":["OFD2","Oraal-faciaal-digitaal syndroom type 2","Syndroom van Mohr"],"definition":"Een zeldzame ontwikkelingsstoornis behorende tot de groep van ciliopathieën, gekenmerkt door craniofaciale, orale en digitale kenmerken."},"pt":{"name":"Síndrome oro-facio-digital tipo 2","synonyms":["OFD2","Síndrome Mohr"],"definition":"A síndrome oral-facio-digital (OFD) tipo 2 é caracterizada por anomalias nas mãos e pés, anomalias faciais, fenda da linha média do lábio superior e hamartomas na língua."},"pl":{"name":"Zespół ustno-twarzowo-palcowy typu 2","synonyms":["Zespół ustno-twarzowo-palcowy typu 2","OFD2","Zespół Mohra"]},"cs":{"name":"Orofaciodigitální syndrom, typ 2","synonyms":["OFD2","Mohrův syndrom"]},"uk":{"name":"Орофаціодигітальний синдром, тип 2","synonyms":["Синдром Мора","OFD2","Орально-лицево-пальцевий синдром, тип 2"],"definition":"Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas."},"zh":{"name":"口面指综合征2型","synonyms":["Mohr综合征"]},"tr":{"name":"Orofasiyodijital sendrom tip 2","synonyms":["OFD2","Mohr sendromu","Oral-fasiyal-dijital sendromu tip 2"]}},"xrefs":[{"source":"OMIM","code":"252100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD25.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1952103404"},{"source":"MONDO","code":"0009642","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538585","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0026363","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3701","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10078419","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":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":140997,"name":"Orofaciodigital syndrome","classifications":[147,156,199,200,209]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"NEK1","name":"NIMA related kinase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27530628[PMID]","hgnc":"7744","ensembl":"ENSG00000137601","omim":"604588","loci":["4q33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"Pr Marie-Paule VAZQUEZ [EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-08","source":"17963220[PMID]_27141300[PMID]_23459408[PMID]_10482880[PMID]_10521839[PMID]_27530628[PMID]_8835325[PMID]_3608220[PMID]_6478638[PMID]_5293864[PMID]","terms":[{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000190","label":"Abnormal oral frenulum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006289","label":"Agenesis of central incisor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010297","label":"Bifid tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010068","label":"Broad first metatarsal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010055","label":"Broad hallux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010100","label":"Complete duplication of hallux phalanx","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040019","label":"Finger clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011802","label":"Hamartoma of tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000685","label":"Hypoplasia of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000161","label":"Median cleft lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001841","label":"Preaxial foot polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011819","label":"Submucous cleft soft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000199","label":"Tongue nodules","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006042","label":"Y-shaped metacarpals","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100702","label":"Arachnoid cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006695","label":"Atrioventricular canal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007768","label":"Central retinal vessel vascular tortuosity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010230","label":"Cone-shaped epiphyses of the phalanges of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001161","label":"Hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005349","label":"Hypoplasia of the epiglottis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009826","label":"Limb undergrowth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004987","label":"Mesomelic leg shortening","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006342","label":"Peg-shaped maxillary lateral incisors","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005873","label":"Polysyndactyly of hallux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005736","label":"Short tibia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002789","label":"Tachypnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011087","label":"Talon cusp","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000679","label":"Taurodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100874","label":"Thick hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410033","label":"Unilateral alveolar cleft of maxilla","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000220","label":"Velopharyngeal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009776","label":"Adactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000050","label":"Hypoplastic male external genitalia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000695","label":"Natal tooth","frequency":"Very rare (<4-1%)","criteria":null}]}}