ORPHA:3184
Steatocystoma multiplex-natal teeth syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare malformation syndrome characterized by generalized multiple steatocystomas and natal teeth.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Steatocystoma multiplex-natal teeth syndrome | |
| fr | Syndrome de stéatocystome multiple-dents néonatales | |
| de | Steatokystoma multiplex - neonatale Zähne | |
| es | Síndrome de esteatocistoma múltiple-dientes neonatales | |
| it | Steatocistoma - denti neonatali | |
| nl | Steatocystoma multiplex - natale tanden-syndroom | |
| pt | Síndrome de esteatocistoma múltiplo-dentes neonatais | |
| pl | Mnogie torbiele łojowe - zęby noworodkowe | |
| cs | Syndrom zahrnující steatocystoma multiplex a natální zuby | |
| uk | Синдром множинної стеатоцистоми-вроджених зубів | |
| zh | 多发性皮脂囊肿-胎生牙综合征 | |
| tr | Steatosistoma multipleks natal diş sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 184510 | E | validated | |
| ICD-10 | L72.2 | NTBT | attributed | validated |
| MONDO | 0008486 | E | validated | |
| MeSH | C537487 | E | validated | |
| UMLS | C4304819 | E | validated | |
| GARD | 5004 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:183460Genetic sebaceous gland anomaly
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - ORPHA:79372Sebaceous gland anomaly
rare skin diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
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.
6
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/3184
- This record as JSON: /data/d/3184.json