Supratip dysplasia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
Supratip dysplasia is a rare, congenital, non-syndromic, nose and cavum malformation characterized by the presence of a bulbous, soft tissue hypertrophy located in the middle-to-distal third of the nasal dorsum, in association with deformed, slightly laterally- and caudally-placed nasal alae and a scar-like atrophic skin lesion located at the nasal tip. Respiratory function is not affected.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Supratip dysplasia | |
| fr | Dysplasie sus-apicale médiane du nez | |
| de | Supratip-Dysplasie | |
| es | Displasia supra-apical | |
| it | Displasia sopra-apicale del naso | |
| nl | Dysplasie van supratip | |
| pt | Displasia supra-apical mediana do nariz | |
| pl | Dysplazja okolicy nad czubkiem nosa | |
| cs | Dysplázie nad špičkou nosu | |
| uk | Супратіпова дисплазія | |
| zh | 鼻尖发育异常 | |
| tr | Supratip displazisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | J34.8 | NTBT | attributed | validated |
| MONDO | 0018757 | E | validated | |
| UMLS | C5681127 | 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:156246Nose and cavum anomaly
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 26947355[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26947355[PMID] |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/466695
- This record as JSON: /data/d/466695.json