Melkersson-Rosenthal syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Childhood
- Status
- active
A rare orofacial granulomatosis characterized by the triad of recurrent or persistent orofacial edema (facial and lip edemas), fissured tongue, and relapsing, unilateral or bilateral peripheral facial nerve paralysis. Most cases present with partial symptoms. Typical age of onset is in childhood or adolescence. Histological examination shows non-caseating epithelioid cell granulomas and lymphedema.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Melkersson-Rosenthal syndrome | |
| fr | Syndrome de Melkersson-Rosenthal | |
| de | Melkersson-Rosenthal-Syndrom | |
| es | Síndrome de Melkersson-Rosenthal | |
| it | Sindrome di Melkersson-Rosenthal | |
| nl | Syndroom van Melkersson-Rosenthal | |
| pt | Síndrome Melkersson-Rosenthal | |
| pl | Zespół Melkerssona i Rosenthala | |
| cs | Melkerssonův-Rosenthalův syndrom | Melkersson-Rosenthalův syndrom |
| uk | Синдром Мелькерссона-Розенталя | |
| zh | 梅-罗综合征 | |
| tr | Melkersson-Rosenthal sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 155900 | E | validated | |
| ICD-10 | G51.2 | E | specific | validated |
| ICD-11 | 8B88.Y | NTBT | index | validated |
| MONDO | 0007969 | E | validated | |
| MeSH | D008556 | E | validated | |
| UMLS | C0025235 | E | validated | |
| GARD | 7010 | E | validated | |
| MedDRA | 10027166 | 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 (1):
- ORPHA:79384Rare urticaria
rare skin diseases; rare allergic disease
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
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100825 | Cheilitis | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0000969 | Edema | |
| HP:0011123 | Inflammatory abnormality of the skin | |
| HP:0000298 | Mask-like facies | |
| HP:0010471 | Oligosacchariduria | |
| HP:0100539 | Periorbital edema | |
| Frequent (79-30%) | ||
| HP:0010628 | Facial palsy | |
| HP:0000221 | Furrowed tongue | |
| HP:0000158 | Macroglossia | |
| Occasional (29-5%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0001945 | Fever | |
| HP:0002716 | Lymphadenopathy | |
| HP:0000639 | Nystagmus | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2483
- This record as JSON: /data/d/2483.json