Morgagni-Stewart-Morel syndrome
Synonyms: Hyperostosis frontalis interna
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, X-linked recessive
- Age of onset
- Adult
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Morgagni-Stewart-Morel syndrome | Hyperostosis frontalis interna |
| fr | Syndrome de Morgagni-Stewart-Morel | Hyperostose frontale interne |
| de | Stewart-Morel-Morgagni-Syndrom | = en |
| es | Síndrome de Morgnagni-Stewart-Morel | |
| it | Sindrome di Morgagni-Stewart-Morel | Iperostosi frontale interna |
| nl | Syndroom van Morgagni-Stewart-Morel | = en |
| pt | Síndrome de Morgnagni-Stewart-Morel | Hiperostose frontal interna |
| pl | Zespół Morgagniego, Stewarta i Morela | Hiperostoza czołowa wewnętrzna |
| cs | Morgagniho-Stewartův-Morelův syndrom | Hyperostosis frontalis interna · Morgagni-Stewart-Morelův syndrom |
| uk | Синдром Морганї-Стюарта-Мореля | Внутрішній лобовий гіперостоз |
| zh | Morgagni-Stewart-Morel综合征 | 额骨内板增生病 |
| tr | Morgagni-Stewart-Morel sendromu | Hiperostosis frontalis interna |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 144800 | E | validated | |
| ICD-10 | M85.2 | NTBT | index | validated |
| ICD-11 | FB80.3 | NTBT | index | validated |
| MONDO | 0007766 | E | validated | |
| MeSH | D006957 | E | validated | |
| UMLS | C0020494 | E | validated | |
| GARD | 8593 | E | validated | |
| MedDRA | 10081545 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98038Cranial malformation
rare developmental anomalies during embryogenesis - ORPHA:183542Genetic cranial malformation
rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
30 annotations · validated 2021-09-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0004438 | Hyperostosis frontalis interna | |
| Very frequent (99-80%) | ||
| HP:0032245 | Abnormal metabolism | |
| HP:0000818 | Abnormality of the endocrine system | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0000708 | Atypical behavior | |
| HP:0002315 | Headache | |
| HP:0001513 | Obesity | |
| Frequent (79-30%) | ||
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000819 | Diabetes mellitus | |
| HP:0001007 | Hirsutism | |
| HP:0002076 | Migraine | |
| Occasional (29-5%) | ||
| HP:0000820 | Abnormality of the thyroid gland | |
| HP:0001061 | Acne | |
| HP:0002345 | Action tremor | |
| HP:0012444 | Brain atrophy | |
| HP:0001348 | Brisk reflexes | |
| HP:0100543 | Cognitive impairment | |
| HP:0000716 | Depression | |
| HP:0003124 | Hypercholesterolemia | |
| HP:0000822 | Hypertension | |
| HP:0002149 | Hyperuricemia | |
| HP:0000821 | Hypothyroidism | |
| HP:0002354 | Memory impairment | |
| HP:0002310 | Orofacial dyskinesia | |
| HP:0002758 | Osteoarthritis | |
| HP:0000939 | Osteoporosis | |
| HP:0000725 | Psychotic episodes | |
| HP:0001250 | Seizure | |
| HP:0031589 | Suicidal ideation | |
| HP:0002321 | Vertigo | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 23284007[PMID]_32611657[PMID]_27698159[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/77296
- This record as JSON: /data/d/77296.json