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ORPHA:778Disease
What it is
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.
Key facts
- Prevalence
- 1-5 / 10 000 (Europe)
- Age of onset
- Infancy
- Inheritance
- X-linked dominant
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
10- Abnormal pattern of respirationDiagnostic criterion
- Abnormal repetitive mannerisms
- Absent speech
- Developmental regressionDiagnostic criterion
- Gait disturbanceDiagnostic criterion
- Global developmental delay
- High-pitched cry
- Progressive language deteriorationDiagnostic criterion
- Progressive microcephaly
- Stereotypical hand wringingDiagnostic criterion
Common30–79%
11- Abnormal muscle toneDiagnostic criterion
- Bradykinesia
- BruxismDiagnostic criterion
- ColdnessDiagnostic criterion
- Dystonia
- EEG abnormality
- Failure to thrive
- Growth delayDiagnostic criterion
- Limb apraxia
- Seizure
- Skeletal muscle atrophy
Sometimes5–29%
13- Abnormal autonomic nervous system physiologyDiagnostic criterion
- Abnormal CSF pyruvate family amino acid concentration
- Agitation
- Cholecystitis
- Floppy infant
- Hyperammonemia
- Inability to walk
- Increased circulating lactate concentration
and 5 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Benefit programs to look at
Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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