Rett syndrome
MeSH: D015518ORPHA: 778
Overview
genetic brain disorder
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 Rett syndrome, sourced from HPO and Orphanet clinical annotations.
Gait disturbanceProgressive microcephalyMotor stereotypyGlobal developmental delayAbsent speechDevelopmental regressionAbnormal pattern of respirationProgressive language deteriorationStereotypical hand wringingHigh-pitched crySeizureDystoniaFailure to thriveGrowth delayBradykinesiaEEG abnormalitySkeletal muscle atrophyBruxismAbnormal muscle toneLimb apraxiaColdnessAgitationCholecystitisHyperammonemiaIncreased circulating lactate concentrationSleep disturbanceIncreased CSF lactateInability to walkScoliosisIncreased circulating pyruvate concentrationFloppy infantAbnormal autonomic nervous system physiologyIncreased serum leptinAbnormal CSF pyruvate family amino acid concentrationPrimary microcephaly
Classification & Codes
MeSH Code
D015518Orphanet Code
ORPHA:778Rett syndrome
| MeSH | D015518 |
| Orphanet | ORPHA:778 |
| Treatments | 0 drug(s) |
| Symptoms on record | 35 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO