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ORPHA:2836Disease
Also called Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy
What it is
A rare early childhood onset progressive encephalopathy characterized by extreme cerebellar atrophy, infantile-onset hypotonia, infantile spasms with hypsarrhythmia, profound intellectual disability, and optic atrophy. PEHO stands for the main features of the syndrome: Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal dominant, Autosomal recessive
- Classified as
- Disease
Signs and symptoms
Very common80–99%
27- Abnormality of eye movement
- Abnormality of movement
- Abnormality of upper lip
- Abnormal palate morphology
- Abnormal pinna morphology
- Biparietal narrowing
- Cerebral cortical atrophy
- Drowsiness
- EEG abnormality
- Epicanthus
- Feeding difficulties
- Full cheeks
- Global developmental delay
- Hyperreflexia
- Hypsarrhythmia
- Infantile spasms
- Intellectual disability, severe
- Macrotia
- Malar flattening
- Midface retrusion
- Open mouth
- Optic atrophy
- Seizure
- Severe muscular hypotonia
- Short nose
- Tapered finger
- Visual loss
Common30–79%
14These 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.
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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