atypical Rett syndrome
MeSH: C567576ORPHA: 3095
Overview
Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT; see this term)
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with atypical Rett syndrome, sourced from HPO and Orphanet clinical annotations.
AgitationAutistic behaviorReduced eye contactIntellectual disabilitySeizureGait disturbanceEEG abnormalitySleep disturbanceLoss of speechDevelopmental regressionAbnormal pattern of respirationFunctional motor deficitInvoluntary movementsFeeding difficultiesStereotypical hand wringingAbnormality of movementRestrictive behaviorHypotoniaSpasticityDystoniaShort footGait ataxiaApraxiaMutismLoss of ambulationInability to walkEpisodic tachypneaSudden episodic apneaAbnormal muscle toneSecondary microcephalySevere global developmental delayFunctional abnormality of the gastrointestinal tractHand apraxiaNeonatal seizureLimb myoclonusTongue thrustingSmall handInappropriate laughterMild intellectual disabilityNeonatal hypotoniaTremorGrowth delayGeneralized myoclonic seizureDelayed gross motor developmentScoliosisKyphosisDevelopmental stagnationImpaired pain sensationInfantile spasmsPanic attackPill-rolling tremorInappropriate cryingReduced social responsiveness
Classification & Codes
MeSH Code
C567576Orphanet Code
ORPHA:3095atypical Rett syndrome
| MeSH | C567576 |
| Orphanet | ORPHA:3095 |
| Treatments | 0 drug(s) |
| Symptoms on record | 53 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO