{"orpha":3051,"name":"Nicolaides-Baraitser syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Intellectual disability-sparse hair-brachydactyly syndrome"],"definition":"A rare, genetic, syndromic intellectual disability characterized by short stature, sparse hair, characteristic coarse face, brachydactyly with prominent interphalangeal joints, seizures and intellectual disability. Facial characteristics include triangular shaped face, dense and prominent eyelashes, rounded premaxilla, broad nasal base, thick alae nasi, upturned nasal tip, broad philtrum, thin upper vermilion, thick and everted lower vermilion and wide mouth.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3051/","orphanet_url":"https://www.orpha.net/en/disease/detail/3051","names":{"fr":{"name":"Syndrome de Nicolaides-Baraitser","synonyms":["Syndrome de déficience intellectuelle-hypotrichose-brachydactylie"],"definition":"Déficience intellectuelle syndromique rare, d'origine génétique, caractérisée par une petite taille, des cheveux clairsemés, des traits de visage grossiers typiques, une brachydactylie avec des articulations interphalangiennes proéminentes, des convulsions et une déficience intellectuelle. La dysmorphie faciale se traduit par un visage triangulaire, de longs cils denses, un os incisif arrondi, un nez à base large, des ailes du nez épaisses, un nez retroussé, un philtrum large, un vermillon supérieur fin, un vermillon inférieur épais et éversé et une grande bouche."},"de":{"name":"Nicolaides-Baraitser-Syndrom","synonyms":["Intelligenzminderung-spärliches Haar-Brachydaktylie-Syndrom"],"definition":"Eine genetisch bedingte syndromale Form der Intelligenzminderung, die durch Kleinwuchs, spärliche Behaarung, ein charakteristisches grobes Gesicht, Brachydaktylie mit ausgeprägten Interphalangealgelenken, Krampfanfälle und intellektuelle Beeinträchtigungen gekennzeichnet ist. Zu den typischen Gesichtsmerkmalen gehören ein dreieckig geformtes Gesicht, dichte und ausgeprägte Wimpern, eine abgerundete Prämaxilla, eine breite Nasenbasis, dicke Nasenflügel, eine nach oben gerichtete Nasenspitze, ein breites Philtrum, dünne Oberlippe, eine dicke und evertierte Unterlippe und ein breiter Mund."},"es":{"name":"Síndrome de Nicolaides-Baraitser","synonyms":["Síndrome de discapacidad intelectual-cabello escaso-braquidactilia"],"definition":"Es un síndrome de discapacidad intelectual, poco frecuente y de origen genético, caracterizado por talla baja, pelo escaso, cara tosca característica, braquidactilia con articulaciones interfalángicas prominentes, crisis y discapacidad intelectual. Las características faciales incluyen una cara de forma triangular, pestañas tupidas y prominentes, premaxilar redondeado, base nasal ancha, aletas nasales gruesas, punta nasal elevada, filtrum ancho, bermellón superior fino, bermellón inferior grueso y evertido y boca ancha."},"it":{"name":"Sindrome di Nicolaides-Baraitser","synonyms":["Sindrome da disabilità intellettiva, capelli radi e brachidattilia"],"definition":"Si tratta di una disabilità intellettiva sindromica rara, di origine genetica, caratterizzata da bassa statura, capelli radi, aspetto grossolano del viso, brachidattilia con articolazioni interfalangee prominenti, crisi epilettiche e disabilità intellettiva. I dismorfismi facciali comprendono il viso triangolare, le ciglia folte e prominenti, la premascella arrotondata, la base del naso ampia con ali spesse e punta rivolta verso l'alto, il filtro largo, l'assottigliamento della porzione mucosa del labbro superiore, l'ispessimento e l'anteversione della porzione muscosa del labbro inferiore e la bocca grande."},"nl":{"name":"Syndroom van Nicolaides-Baraitser","synonyms":["Intellectuele achterstand - dun haar - brachydactylie-syndroom"],"definition":"Een zeldzame, genetische syndromale intellectuele achterstand, gekenmerkt door kleine gestalte, schaars haar, kenmerkend grof gelaat, brachydactylie met prominente interfalangeale gewrichten, insulten, en intellectuele achterstand. Gelaatskenmerken zijn onder meer een driehoekig gelaat, dense en prominent wimpers, ronde premaxilla, brede neusbasis, dikke neusvleugels, wipneus, breed filtrum, dun bovenste vermiljoen, dik en geëverteerd onderste vermiljoen, en brede mond."},"pt":{"name":"Síndrome Nicolaides-Baraitser","synonyms":["Síndrome de perturbação do desenvolvimento intelectual-cabelo rarefeito-braquidactilia"]},"pl":{"name":"Niepełnosprawność intelektualna - rzadkie włosy - brachydaktylia","synonyms":["Zespół Nicolaidesa i Baraitsera"]},"cs":{"name":"Syndrom zahrnující mentální retardaci, řídké vlasy a brachydaktylii","synonyms":["Nicolaidesův-Baraitserův syndrom","Nicolaides-Baraitserův syndrom"]},"uk":{"name":"Синдром Ніколаїдеса-Барайцера","synonyms":["Синдром інтелектуальної недостатності-рідкого волосся-брахідактилії"],"definition":"A rare, genetic, syndromic intellectual disability characterized by short stature, sparse hair, characteristic coarse face, brachydactyly with prominent interphalangeal joints, seizures and intellectual disability. Facial characteristics include triangular shaped face, dense and prominent eyelashes, rounded premaxilla, broad nasal base, thick alae nasi, upturned nasal tip, broad philtrum, thin upper vermilion, thick and everted lower vermilion and wide mouth."},"zh":{"name":"智力障碍-毛发稀疏-肢端短小综合征","synonyms":["Nicolaides-Baraitser 综合征"]},"tr":{"name":"Zihinsel yetersizlik-seyrek saç-brakidaktili sendromu","synonyms":["Nicolaides-Baraitser sendromu"]}},"xrefs":[{"source":"OMIM","code":"601358","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011053","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536116","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1303073","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"270","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]}],"children":[],"genes":[{"symbol":"SMARCA2","name":"SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22366787[PMID]","hgnc":"11098","ensembl":"ENSG00000080503","omim":"600014","loci":["9p24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":61.0,"area":"Worldwide","status":"Validated","source":"25169878[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25169878[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-13","source":null,"terms":[{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010529","label":"Echolalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002300","label":"Mutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009928","label":"Thick nasal alae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010720","label":"Abnormal hair pattern","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000035","label":"Abnormal testis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001167","label":"Abnormality of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009836","label":"Broad distal phalanx of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100760","label":"Clubbing of toes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007665","label":"Curly eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011097","label":"Epileptic spasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007392","label":"Excessive wrinkled skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002121","label":"Generalized non-motor (absence) seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000446","label":"Narrow nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Occasional (29-5%)","criteria":null}]}}