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Start free with EleplanMorgagni-Stewart-Morel syndrome
ORPHA:77296Malformation syndrome
Also called Hyperostosis frontalis interna
What it is
A rare cranial malformation characterized by hyperostosis frontalis interna, variably associated with metabolic and endocrine disorders (such as obesity, diabetes mellitus, and hirsutism, among others). Compression by calvarial thickening may lead to cerebral atrophy and present with cognitive impairment, neuropsychiatric symptoms, headaches, and epilepsy. The condition predominantly affects women.
Key facts
- Age of onset
- Adult
- Inheritance
- Autosomal dominant, X-linked recessive
- Classified as
- Malformation syndrome
Signs and symptoms
Very common80–99%
6Sometimes5–29%
19- Abnormality of the thyroid gland
- Acne
- Action tremor
- Brain atrophy
- Brisk reflexes
- Cognitive impairment
- Depression
- Hypercholesterolemia
and 11 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.
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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