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Start free with EleplanBrainstem disconnection syndrome
ORPHA:727820Disease
What it is
A rare syndrome with a brainstem malformation as a major feature characterized by the complete absence, or the complete or functional disconnection of the brainstem segments (midbrain, pons and medulla). Patients present with hypotonia, absence of eye contact, signs of impaired thermoregulation, paralysis of some cranial nerves and variable brain anomalies, mostly global cerebellar hypoplasia. Some patients manifest extracerebral anomalies like facial dysmorphism and heart defects. The prognosis is very poor and in case of survival, the patients suffer from severe disability.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Neonatal
- Inheritance
- Unknown
- 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.
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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