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Start free with EleplanMedullary tegmental cap dysplasia
ORPHA:727881Morphological anomaly
Also called MTCD
What it is
A rare syndrome with a brainstem malformation as a major feature characterized by an abnormal mass, also called cap, of different shape and size, protruding from the posterior medullary surface. Patients may present a variable phenotype ranging from normal neurodevelopment to profound developmental delay, as well as variable neurologic manifestations such as hypotonia, strabismus, nystagmus, absent eye contact and hyperkinetic movements. Sometimes, extracerebral anomalies are observed such as cutaneous lesions, respiratory problems, hematologic and hepatic disorders.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Neonatal
- Inheritance
- Unknown
- Classified as
- Morphological anomaly
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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