{"orpha":3095,"name":"Atypical Rett syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Atypical RTT","Rett syndrome variant"],"definition":"A rare genetic neurological disorder characterized by the presence of two or more of the main criteria for classic Rett syndrome (loss of acquired purposeful hand skills, loss of acquired spoken language, gait abnormalities, stereotypic hand movements), a period of regression followed by recovery or stabilization, and five out of eleven supportive criteria (breathing difficulties, bruxism, impaired sleep pattern, abnormal muscle tone, peripheral vasomotor disturbances, scoliosis/kyphosis, delayed growth, small cold hands and feet, inappropriate laughter or screaming spells, decreased pain sensation, and intense eye communication). Like classic Rett syndrome, it almost exclusively affects girls, while the disease course may be either milder or more severe.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3095/","orphanet_url":"https://www.orpha.net/en/disease/detail/3095","names":{"fr":{"name":"Syndrome de Rett atypique","synonyms":["RTT atypique","Syndrome Rett-like","Variant du syndrome de Rett"],"definition":"Le syndrome de Rett atypique (RTT atypique) est un trouble du développement du système nerveux central diagnostiqué chez un enfant avec un tableau clinique compatible avec un syndrome de Rett mais qui ne présente pas tous les critères diagnostics du syndrome Rett typique."},"de":{"name":"Rett-Syndrom, atypisches","synonyms":["Atypisches RTT","Rett-Syndrom, Variante"],"definition":"Eine seltene genetisch bedingte neurologische Störung, die durch das Vorhandensein von zwei oder mehr der Hauptkriterien des klassischen Rett-Syndroms (Verlust der erworbenen zielgerichteten Handfertigkeiten, Verlust der erworbenen gesprochenen Sprache, Ganganomalien, stereotype Handbewegungen), eine Periode der Rückbildung gefolgt von einer Erholung oder Stabilisierung gekennzeichnet ist, und fünf von elf unterstützenden Kriterien (Atembeschwerden, Bruxismus, gestörter Schlafrhythmus, abnormaler Muskeltonus, periphere vasomotorische Störungen, Skoliose/Kyphose, verzögertes Wachstum, kleine kalte Hände und Füße, unangemessenes Lachen oder Schreianfälle, verminderte Schmerzempfindung und intensive Augenkommunikation). Wie das klassische Rett-Syndrom betrifft es fast ausschließlich Mädchen, wobei der Krankheitsverlauf entweder milder oder schwerer sein kann."},"es":{"name":"Síndrome de Rett atípico","synonyms":["RTT atípico","Variante del síndrome de Rett"],"definition":"Es un trastorno del neurodesarrollo que se diagnostica cuando un niño presenta un síndrome similar a Rett, pero no cumple todos los criterios de diagnóstico del síndrome de Rett típico (RTT clásico/típico)."},"it":{"name":"Sindrome di Rett, forma atipica","synonyms":["RTT atipica","Sindrome Rett-simile","Variante della sindrome di Rett"]},"nl":{"name":"Atypisch syndroom van Rett","synonyms":["Atypisch RTT","Variant van syndroom van Rett"],"definition":"Een zeldzame genetische neurologische aandoening, gekenmerkt door de aanwezigheid van twee of meer van de hoofdcriteria van klassiek syndroom van Rett (verlies van verworven doelgerichte handvaardigheden, verlies van verworven gesproken taal, ganganomalieën, stereotiepe handbewegingen), een periode van regressie gevolgd door herstel of stabilisatie, en van vijf van de elf nevencriteria (ademhalingsproblemen, bruxisme, verstoord slaappatroon, abnormale spiertonus, perifere vasomotorische stoornissen, scoliose/kyfose, vertraagde groei, kleine en koude handen en voeten, episodes van ongepast gelach of geschreeuw, verminderde pijnzin, en intens oogcontact). Net als bij klassiek syndroom van Rett (RTT) worden bijna uitsluitend meisjes getroffen, terwijl het ziekteverloop milder of net ernstiger kan zijn."},"pt":{"name":"Síndrome Rett atípico","synonyms":["RTT atípico","Variante da síndrome Rett"]},"pl":{"name":"Atypowy zespół Retta","synonyms":["Atypowy RTT","Wariant zespołu Retta"]},"cs":{"name":"Atypický Rettův syndrom","synonyms":["Atypický RTT","Varianta Rettova syndromu"]},"uk":{"name":"Атиповий синдром Ретта","synonyms":["Нетиповий RTT","Варіант синдрому Ретта"],"definition":"A rare genetic neurological disorder characterized by the presence of two or more of the main criteria for classic Rett syndrome (loss of acquired purposeful hand skills, loss of acquired spoken language, gait abnormalities, stereotypic hand movements), a period of regression followed by recovery or stabilization, and five out of eleven supportive criteria (breathing difficulties, bruxism, impaired sleep pattern, abnormal muscle tone, peripheral vasomotor disturbances, scoliosis/kyphosis, delayed growth, small cold hands and feet, inappropriate laughter or screaming spells, decreased pain sensation, and intense eye communication). Like classic Rett syndrome, it almost exclusively affects girls, while the disease course may be either milder or more severe."},"zh":{"name":"非典型Rett综合征","synonyms":["Rett综合征变体"]},"tr":{"name":"Atipik Rett sendromu","synonyms":["Atipik RTT","Rett sendromu varyantı"]}},"xrefs":[{"source":"OMIM","code":"300672","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"312750","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617903","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617904","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"F84.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"605088126"},{"source":"MONDO","code":"0017746","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567576","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2748910","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4694","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":"CDKL5","name":"cyclin dependent kinase like 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22196487[PMID]_22787626[PMID]","hgnc":"11411","ensembl":"ENSG00000008086","omim":"300203","loci":["Xp22.13"]},{"symbol":"GABBR2","name":"gamma-aminobutyric acid type B receptor subunit 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28856709[PMID]","hgnc":"4507","ensembl":"ENSG00000136928","omim":"607340","loci":["9q22.33"]},{"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"]},{"symbol":"NTNG1","name":"netrin G1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17903671[PMID]","hgnc":"23319","ensembl":"ENSG00000162631","omim":"608818","loci":["1p13.3"]},{"symbol":"SMC1A","name":"structural maintenance of chromosomes 1A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32222533[PMID]","hgnc":"11111","ensembl":"ENSG00000072501","omim":"300040","loci":["Xp11.22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","X-linked dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Worldwide","status":"Validated","source":"32984552[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-04","source":"30929312[PMID]_20301670[PMID]_31049350[PMID]","terms":[{"hpo":"HP:0002793","label":"Abnormal pattern of respiration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000713","label":"Agitation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002371","label":"Loss of speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000817","label":"Reduced eye contact","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012171","label":"Stereotypical hand wringing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003808","label":"Abnormal muscle tone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002186","label":"Apraxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002876","label":"Episodic tachypnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012719","label":"Functional abnormality of the gastrointestinal tract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032588","label":"Hand apraxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045084","label":"Limb myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002505","label":"Loss of ambulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002300","label":"Mutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032807","label":"Neonatal seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012760","label":"Reduced social responsiveness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000723","label":"Restrictive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005484","label":"Secondary microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002882","label":"Sudden episodic apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100703","label":"Tongue thrusting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007281","label":"Developmental stagnation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030215","label":"Inappropriate crying","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000748","label":"Inappropriate laughter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025269","label":"Panic attack","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025387","label":"Pill-rolling tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007824","label":"Total ophthalmoplegia","frequency":"Excluded (0%)","criteria":null}]}}