{"orpha":166108,"name":"Birk-Barel syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Birk-Barel Intellectual Disability-Dimorphism syndrome","Intellectual disability-hypotonia-facial dysmorphism syndrome","KCNK9 imprinting syndrome"],"definition":"Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-166108/","orphanet_url":"https://www.orpha.net/en/disease/detail/166108","names":{"fr":{"name":"Syndrome de Birk-Barel","synonyms":["Syndrome d'empreinte KCNK9","Syndrome de déficience intellectuelle-dimorphisme de Birk-Barel","Syndrome de déficience intellectuelle-hypotonie-dysmorphie faciale"],"definition":"Déficience intellectuelle syndromique rare d'origine génétique caractérisée par une hypotonie centrale congénitale, un retard de développement, une déficience intellectuelle modérée à sévère et une dysmorphie subtile évoluant au fil du temps temps (dolichocéphalie, faciès myopathique, ptosis, philtrum court et large, vermillon de la lèvre supérieure en forme de tente, malformations du palais, micro et/ou rétrognathie légère). On observe des mouvements faciaux réduits, une léthargie, des pleurs faibles, une hypoglycémie néonatale transitoire, de graves difficultés à s'alimenter et un retard de croissance staturo-pondérale. La maladie se caractérise par ailleurs par une dysphagie, en particulier concernant les aliments solides, une corpulence asthénique, des contractures articulaires et une scoliose."},"de":{"name":"Birk-Barel-Syndrom","synonyms":["Intelligenzminderung Typ Birk-Barel","KCNK9-assoziiertes Imprinting-Syndrom","Syndromale Intelligenzminderung mit Hypotonie und Gesichtsdysmorphien"]},"es":{"name":"Síndrome de Birk-Barel","synonyms":["Síndrome de discapacidad intelectual-dismorfia de Birk-Barel","Síndrome de discapacidad intelectual-hipotonía-dismorfia facial","Síndrome de impronta KCNK9"],"definition":"Es una discapacidad intelectual sindrómica, genética y poco frecuente, caracterizada por hipotonía central congénita, retraso en el desarrollo, discapacidad intelectual de moderada a grave y leves características dismórficas que evolucionan con el tiempo (dolicocefalia, facies miopática, ptosis, filtrum corto y ancho, bermellón superior en forma de carpa, anomalías palatinas, micro- y/o retrognatia leves). Los afectados presentan movimientos faciales reducidos, letargia, llanto débil, hipoglucemia neonatal transitoria, dificultades graves en la alimentación y fallo de medro. Otras características son disfagia, particularmente de alimentos sólidos, constitución corporal asténica, contracturas articulares y escoliosis."},"it":{"name":"Disabilità intellettiva tipo Birk-Barel","synonyms":["Sindrome disabilità intellettiva-ipotonia-dismorfismi facciali","Sindrome disabilità intellettiva-dismorfismi di Birk-Barel","Sindrome disabilità intellettiva-ipotonia-dismorfismi facciali","Sindrome da imprinting di KCNK9"],"definition":"La disabilità intellettiva tipo Birk-Barel è una disabilità intellettiva sindromica rara, di origine genetica, caratterizzata da ipotonia centrale congenita, ritardo dello sviluppo, disabilità intellettiva moderata-grave, dismorfismi sfumati che evolvono nel tempo (dolicocefalia, facies miopatica, ptosi, filtro corto e largo, porzione mucosa del labbro superiore ''a tenda'', anomalie del palato, micro- e/o retro-gnazia lievi). I pazienti presentano una riduzione dei movimenti facciali, letargia, pianto debole, ipoglicemia neonatale transitoria, gravi difficoltà di alimentazione e ritardo della crescita. Altri segni clinici comprendono la disfagia, in particolare con difficoltà a deglutire il cibo solido, corporatura astenica, contratture articolari e scoliosi."},"nl":{"name":"Syndroom van Birk-Barel","synonyms":["Intellectuele achterstand - hypotonie - faciale dysmorfie-syndroom","Intellectuele achterstand, Birk-Barel-type - dimorfisme-syndroom","KCNK9-imprintingsyndroom"],"definition":"Intellectuele achterstand, Birk-Barel-type, is een zeldzame, genetische, syndromale intellectuele invaliditeit die gekarakteriseerd wordt door congenita centrale hypotonie, ontwikkelingsachterstand, matige tot ernstige intellectuele achterstand en subtiele dysmorfe kenmerken die mettertijd evolueren (dolichocefalie, myopathisch gelaat, ptose, kort en breed filtrum, tentvormig vermiljoen van de bovenlip, anomalieën van het gehemelte, milde micro- en/of retrognathie). Patiënten vertonen verminderde gelaatsbewegingen, lethargie, zwak gehuil, transiënte neonatale hypoglycemie, ernstige voedingsproblemen en groeiachterstand. Bijkomende kenmerken zijn dysfagie, voornamelijk van vast voedsel, asthenische lichaamsbouw, gewrichtscontracturen en scoliose."},"pt":{"name":"Perturbação do desenvolvimento intelectual, tipo Birk-Barel","synonyms":["Síndrome de perturbação do desenvolvimento intelectual-hipotonia-dismorfia facial"]},"pl":{"name":"Zespół Birk-Barel","synonyms":["Niepełnosprawność intelektualna - hipotonia - dysmorfia twarzy"]},"cs":{"name":"Mentální retardace, Birkův-Barelův typ","synonyms":["Syndrom zahrnující mentální retardaci, hypotonii a faciální dysmorfismus","Mentální retardace, Birk-Barelův typ"]},"uk":{"name":"Інтелектуальна недостатність, тип Бірк-Бареля","synonyms":["Синдром інтелектуальної недостатності-гіпотонії-лицевого дисморфізму"],"definition":"Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features."},"zh":{"name":"Birk-Barel 型智力障碍","synonyms":["智力障碍-张力过低-面部畸形综合征"],"definition":"Birk-Barel型智力障碍是一种罕见的遗传性综合征性智力障碍，其特征是先天性中枢性肌张力低下、发育迟缓、中至重度智力障碍和随时间变化的轻度异形特征(长头畸形、肌病性面容、上睑下垂、人中短宽、帐篷状上唇、腭部异常、轻度小颌畸形和/或后下颌后缩)。患者表现为面部运动减少，嗜睡，哭声微弱，新生儿一过性低血糖，严重喂养困难和体重增长不良。其他特征有吞咽困难（尤其是是固体食物吞咽困难），体格虚弱，关节挛缩和脊柱侧凸是另外的特征。"},"tr":{"name":"zihinsel yetersizlik, Birk-Barel tipi","synonyms":["Zihinsel yetersizlik-hipotoni-fasiyal dismorfizm sendromu"]}},"xrefs":[{"source":"OMIM","code":"612292","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012856","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567357","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2676770","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10358","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98746,"name":"Neurological channelopathy of the central nervous system due to a genetic potassium channel defect","classifications":[156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"KCNK9","name":"potassium two pore domain channel subfamily K member 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18678320[PMID]","hgnc":"6283","ensembl":"ENSG00000169427","omim":"605874","loci":["8q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"18678320[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18678320[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-07-29","source":"30690205[PMID]_27151206[PMID]_18678320[PMID]","terms":[{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000289","label":"Broad philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030197","label":"Fatigable weakness of skeletal muscles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030200","label":"Fatiguable weakness of proximal limb muscles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000338","label":"Hypomimic face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011081","label":"Incisor macrodontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000446","label":"Narrow nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040288","label":"Nasogastric tube feeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010804","label":"Tented upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005879","label":"Congenital finger flexion contractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008366","label":"Foot joint contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005060","label":"Limited elbow flexion/extension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007002","label":"Motor axonal neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007269","label":"Spinal muscular atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001308","label":"Tongue fasciculations","frequency":"Occasional (29-5%)","criteria":null}]}}