{"orpha":778,"name":"Rett syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare severe, X-linked, neurodevelopmental disorder characterized by rapid developmental regression in infancy, partial or complete loss of purposeful hand movements, loss of speech, gait abnormalities, and stereotypic hand movements, commonly associated with deceleration of head growth, severe intellectual disability, seizures, and breathing abnormalities. The disorder has a progressive clinical course and may associate various comorbidities including gastrointestinal diseases, scoliosis, and behavioral disorders.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-778/","orphanet_url":"https://www.orpha.net/en/disease/detail/778","names":{"fr":{"name":"Syndrome de Rett","definition":"Maladie neurodéveloppementale rare, sévère, liée à l'X, caractérisée par une régression rapide du développement dans la petite enfance, une perte partielle ou complète des mouvements intentionnels des mains, une perte de la parole, des anomalies de la démarche et des mouvements stéréotypés des mains, généralement associés à un ralentissement de la croissance de la tête, une déficience intellectuelle sévère, des crises d'épilepsie et des anomalies respiratoires. Sur le plan clinique, la maladie évolue de manière progressive et peut être associée à diverses comorbidités, notamment des maladies gastro-intestinales, une scoliose et des troubles du comportement."},"de":{"name":"Rett-Syndrom","definition":"Eine schwere X-chromosomal vererbte neurologische Entwicklungsstörung, die durch eine rasche Entwicklungsregression im Säuglingsalter, einen teilweisen oder vollständigen Verlust zielgerichteter Handbewegungen, Sprachverlust, Ganganomalien und stereotype Handbewegungen gekennzeichnet ist und häufig mit einer Verlangsamung des Kopfwachstums, schwerer Intelligenzminderung, Krampfanfällen und Atemstörungen einhergeht. Die Störung hat einen progressiven klinischen Verlauf und kann mit verschiedenen Komorbiditäten wie Magen-Darm-Erkrankungen, Skoliose und Verhaltensstörungen einhergehen."},"es":{"name":"Síndrome de Rett","definition":"Es un trastorno grave y poco frecuente del neurodesarrollo ligado al cromosoma X que se caracteriza por una rápida regresión del desarrollo en la lactancia con pérdida parcial o total de las habilidades con intención de la manipulación y del lenguaje oral, anomalías de la marcha y movimientos estereotipados de las manos, asociado habitualmente a una desaceleración del crecimiento de la cabeza, discapacidad intelectual grave, crisis epilépticas y problemas respiratorios. El trastorno sigue un curso clínico progresivo y puede asociar diversas comorbilidades, como enfermedades gastrointestinales, escoliosis y trastornos de conducta."},"it":{"name":"Sindrome di Rett","definition":"La sindrome di Rett (RTT) è una malattia rara e grave del neurosviluppo legata all'X, caratterizzata da rapida regressione dello sviluppo nella prima infanzia, perdita parziale o completa dei movimenti intenzionali delle mani, perdita del linguaggio, anomalie dell'andatura e movimenti stereotipati delle mani, di solito associati alla decelerazione della crescita del cranio, disabilità intellettiva grave, crisi epilettiche e anomalie del respiro. La malattia ha un decorso clinico progressivo, e può associarsi a diverse comorbilità, tra le quali le malattie gastrointestinali, la scoliosi e i disturbi del comportamento."},"nl":{"name":"Syndroom van Rett","definition":"Een zeldzame, ernstige, X-gebonden neurologische ontwikkelingsstoornis, gekarakteriseerd door snelle ontwikkelingsregressie in de zuigelingentijd, partieel of volledig verlies van doelgerichte handbewegingen, verlies van spraak, gangstoornissen, en stereotiepe handbewegingen, doorgaans geassocieerd met vertraging van de groei van het hoofd, ernstige intellectuele achterstand, insulten, en afwijkende ademhaling. De aandoening kent een progressief klinisch verloop, en kan gepaard gaan met verschillende comorbiditeiten, waaronder gastro-intestinale ziekten, scoliose, en gedragsstoornissen."},"pt":{"name":"Síndrome Rett","definition":"Perturbação neurológica rara, grave, ligada ao cromossoma X, caracterizada por uma rápida regressão do desenvolvimento na infância, perda parcial ou completa dos movimentos intencionais das mãos, perda da fala, anomalias da marcha e movimentos estereotipados das mãos, comummente associada à desaceleração do crescimento da cabeça, perturbação do desenvolvimento intelectual grave, convulsões e anomalias respiratórias. A doença tem um curso clínico progressivo e pode estar associado a diversas comorbilidades, incluindo doenças gastrointestinais, escoliose e distúrbios comportamentais."},"pl":{"name":"Zespół Retta","definition":"Rzadkie, ciężkie zaburzenie neurorozwojowe sprzężone z chromosomem X, charakteryzujące się szybkim regresem rozwojowym w okresie niemowlęcym, częściową lub całkowitą utratą celowych ruchów rąk, utratą mowy, zaburzeniami chodu i stereotypowymi ruchami rąk, często związanymi ze spowolnieniem przyrostu obwodu głowy, ciężką niepełnosprawnością intelektualną , drgawkami i zaburzeniami oddychania. Zaburzenie ma postępujący przebieg, mogą towarzyszyć inne objawy, w tym ze strony układu pokarmowego, skolioza i zaburzenia zachowania."},"cs":{"name":"Rettův syndrom"},"uk":{"name":"Синдром Ретта","definition":"A rare severe, X-linked, neurodevelopmental disorder characterized by rapid developmental regression in infancy, partial or complete loss of purposeful hand movements, loss of speech, gait abnormalities, and stereotypic hand movements, commonly associated with deceleration of head growth, severe intellectual disability, seizures, and breathing abnormalities. The disorder has a progressive clinical course and may associate various comorbidities including gastrointestinal diseases, scoliosis, and behavioral disorders."},"zh":{"name":"Rett综合征"},"tr":{"name":"Rett sendromu"}},"xrefs":[{"source":"OMIM","code":"312750","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"F84.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LD90.4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"201200685"},{"source":"MONDO","code":"0010726","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D015518","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0035372","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5696","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10077709","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]},{"orpha":306765,"name":"Motor stereotypies","classifications":[156,181]},{"orpha":168778,"name":"Rare pervasive developmental disorder","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MECP2","name":"methyl-CpG binding protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301670[PMID]","hgnc":"6990","ensembl":"ENSG00000169057","omim":"300005","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Infancy"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Europe","status":"Not yet validated","source":"12378695[PMID]_21878110[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2019[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"France","status":"Not yet validated","source":"16647997[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Sweden","status":"Not yet validated","source":"3571139[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Japan","status":"Not yet validated","source":"2803793[PMID]"},{"type":"Prevalence at birth","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"United States","status":"Not yet validated","source":"2063900[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.6,"area":"United Kingdom","status":"Validated","source":"National Congenital Anomaly and Rare Disease OTHERistration Service 2017[OTHER]_3087206[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.05,"area":"Australia","status":"Not yet validated","source":"21587099[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Australia","status":"Not yet validated","source":"21587099[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Hong Kong","status":"Not yet validated","source":"18174559[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-01-16","source":"20301670[PMID]_31645864[PMID]_29445033[PMID]_30648368[PMID]","terms":[{"hpo":"HP:0002793","label":"Abnormal pattern of respiration","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025430","label":"High-pitched cry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007064","label":"Progressive language deterioration","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000253","label":"Progressive microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012171","label":"Stereotypical hand wringing","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003808","label":"Abnormal muscle tone","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003763","label":"Bruxism","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0033850","label":"Coldness","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0030217","label":"Limb apraxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0500231","label":"Abnormal CSF pyruvate family amino acid concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000713","label":"Agitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001082","label":"Cholecystitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001987","label":"Hyperammonemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002490","label":"Increased CSF lactate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003542","label":"Increased circulating pyruvate concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031793","label":"Increased serum leptin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0011451","label":"Primary microcephaly","frequency":"Very rare (<4-1%)","criteria":null}]}}