ORPHA:3110
Rombo syndrome
historical
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Childhood
- Status
- historical
Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rombo syndrome | |
| fr | Syndrome de Rombo | |
| de | Rombo-Syndrom | |
| es | Síndrome de Rombo | |
| it | Sindrome di Rombo | |
| nl | Syndroom van Rombo | |
| pt | Síndrome Rombo | |
| pl | Zespół Rombo | |
| cs | Romboův syndrom | |
| uk | Синдром Ромбо | |
| zh | Rombo综合征 | |
| tr | Rombo sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 180730 | E | validated | |
| ICD-10 | L98.8 | NTBT | attributed | validated |
| ICD-11 | LD27.5 | NTBT | attributed | validated |
| MONDO | 0008390 | E | validated | |
| MeSH | C535870 | E | validated | |
| UMLS | C1867147 | E | validated | |
| GARD | 4738 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:183487Genetic skin tumor or hamartoma
rare genetic diseases - ORPHA:79386Rare skin tumor or hamartoma
rare skin diseases; rare neoplastic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | 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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3110
- This record as JSON: /data/d/3110.json