{"orpha":819,"name":"Smith-Magenis syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["17p11.2 microdeletion syndrome"],"definition":"A rare, genetic, neurodevelopmental disorder characterized by cognitive impairment of variable severity, behavioral abnormalities, and sleep disturbance. Patients present with distinctive physical features and a wide range of malformations (e.g. cardiac, renal).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-819/","orphanet_url":"https://www.orpha.net/en/disease/detail/819","names":{"fr":{"name":"Syndrome de Smith-Magenis","synonyms":["Syndrome de microdélétion 17p11.2"],"definition":"Trouble du neurodéveloppement rare, d'origine génétique, caractérisé par une déficience intellectuelle de gravité variable, des troubles comportementaux et des troubles du sommeil. Les patients présentent des caractéristiques physiques distinctives et de nombreuses malformations (par exemple, cardiaques, rénales)."},"de":{"name":"Smith-Magenis-Syndrom","synonyms":["Mikrodeletionssyndrom 17p11.2"],"definition":"Eine genetisch bedingte neurologische Entwicklungsstörung, die durch kognitive Beeinträchtigungen unterschiedlichen Ausmaßes, Verhaltensauffälligkeiten und Schlafstörungen gekennzeichnet ist. Die Patienten zeigen ausgeprägte körperliche Merkmale und eine Vielzahl von Fehlbildungen (z. B. Herz- und Nierenfehlbildungen)."},"es":{"name":"Síndrome de Smith-Magenis","synonyms":["Síndrome de microdeleción 17p11.2"],"definition":"Es un trastorno de origen genético y poco frecuente del neurodesarrollo caracterizado por afectación cognitiva de gravedad variable, alteraciones de la conducta y trastornos del sueño. Los pacientes presentan características físicas distintivas y una amplia gama de malformaciones (ej. cardíacas, renales)."},"it":{"name":"Sindrome di Smith-Magenis","synonyms":["Sindrome da microdelezione 17p11.2"],"definition":"La sindrome di Smith-Magenis (SMS) è una malattia genetica rara del neurosviluppo, caratterizzata da deficit cognitivo di gravità variabile, anomalie comportamentali, disturbi del sonno, dismorfismi caratteristici e un'ampia gamma di difetti (ad es. cardiaci e renali)."},"nl":{"name":"Syndroom van Smith-Magenis","synonyms":["17p11.2-microdeletiesyndroom"],"definition":"Een zeldzame, genetische neurologische ontwikkelingsstoornis, gekarakteriseerd door cognitieve functiestoornis met variabele gradaties van ernst, gedragsafwijkingen, en slaapstoornis. Patiënten vertonen typische lichamelijke kenmerken en een brede waaier van malformaties (e.g. hart, nier)."},"pt":{"name":"Síndrome Smith-Magenis","synonyms":["Deleção 17p11.2"],"definition":"A síndrome de Smith-Magenis (SMS) é uma doença genética complexa caracterizada por um défice cognitivo de grau variável, distúrbios do sono, anomalias craniofaciais e esqueléticas, alterações psiquiátricas e atraso no desenvolvimento motor e da fala."},"pl":{"name":"Zespół Smitha i Magenis","synonyms":["Zespół mikrodelecji 17p11.2"],"definition":"Rzadkie, genetycznie uwarunkowane zaburzenie neurorozwojowe, które charakteryzuje się zaburzeniami funkcji poznawczych o różnym nasileniu, zaburzeniami zachowania i snu. Obserwuje się charakterystyczne cechy fizyczne i szerokie spektrum wad rozwojowych (np. serca, nerek)."},"cs":{"name":"Smithové-Magenisové syndrom","synonyms":["Mikrodeleční syndrom 17p11.2","Smith-Magenisové syndrom"]},"uk":{"name":"Синдром Сміта-Магеніса","synonyms":["Синдром мікроделеції 17p11.2"],"definition":"A rare, genetic, neurodevelopmental disorder characterized by cognitive impairment of variable severity, behavioral abnormalities, and sleep disturbance. Patients present with distinctive physical features and a wide range of malformations (e.g. cardiac, renal)."},"zh":{"name":"史密斯-马吉利氏综合征","synonyms":["17p11.2微缺失综合征"]},"tr":{"name":"Smith-Magenis sendromu","synonyms":["17p11.2 mikrodelesyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"182290","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.H1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"989025532"},{"source":"MONDO","code":"0008434","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D058496","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795864","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8197","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081680","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":261965,"name":"Partial deletion of the short arm of chromosome 17 syndrome","classifications":[147,156]},{"orpha":180772,"name":"Rare disease with autism","classifications":[156,181]},{"orpha":240371,"name":"Syndromic obesity","classifications":[147,156,193]}],"children":[],"genes":[{"symbol":"RAI1","name":"retinoic acid induced 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301487[PMID]","hgnc":"9834","ensembl":"ENSG00000108557","omim":"607642","loci":["17p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"17468296[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"Worldwide","status":"Not yet validated","source":"17468296[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.35,"area":"Europe","status":"Validated","source":"[EXPERT]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"United States","status":"Not yet validated","source":"1746552[PMID]_16354942[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.35,"area":"United States","status":"Not yet validated","source":"1746552[PMID]_16354942[PMID]_ ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-05-13","source":"35205380[PMID]_20301487[PMID]","terms":[{"hpo":"HP:0012689","label":"Abnormal pineal melatonin secretion","frequency":"Very frequent (99-80%)","criteria":"Pathognomonic sign"},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005607","label":"Abnormal tracheobronchial morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000680","label":"Delayed eruption of primary teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100729","label":"Large face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000679","label":"Taurodontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010804","label":"Tented upper lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025160","label":"Abnormal temper tantrums","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001169","label":"Broad palm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010780","label":"Hyperacusis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003124","label":"Hypercholesterolemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100710","label":"Impulsivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032509","label":"Onychotillomania","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032508","label":"Polyembolokoilamania","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:5200360","label":"Short rem sleep","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006979","label":"Sleep-wake cycle disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000321","label":"Square face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000220","label":"Velopharyngeal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032041","label":"Vocal cord polyp","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100542","label":"Abnormal localization of kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000119","label":"Abnormality of the genitourinary system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000069","label":"Abnormality of the ureter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000204","label":"Cleft upper lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002720","label":"Decreased circulating IgA level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001161","label":"Hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034819","label":"Iris nodule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Occasional (29-5%)","criteria":null}]}}