Keratosis palmaris et plantaris-clinodactyly syndrome
historical
Synonyms: Palmoplantar keratoderma-clinodactyly syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- historical
Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Keratosis palmaris et plantaris-clinodactyly syndrome | Palmoplantar keratoderma-clinodactyly syndrome |
| fr | Syndrome de kératose palmoplantaire-clinodactylie | Syndrome de kératodermie palmoplantaire-clinodactylie |
| de | Palmoplantarkeratose-Klinodaktylie-Syndrom | |
| es | Síndrome de queratosis palmaris et plantaris-clinodactilia | Queratodermia palmoplantar-clinodactilia |
| it | Keratosis palmaris et plantaris - clinodattilia | Cheratoderma palmoplantare - clinodattilia |
| nl | Keratosis palmaris et plantaris - clinodactylie-syndroom | Palmoplantaire keratodermie - clinodactylie-syndroom |
| pt | Síndrome de queratose palmar e plantar-clinodactilia | Síndrome de queratoderma palmoplantar-clinodactilia |
| pl | Rogowiec dłoni i stóp - klinodaktylia | Rogowiec dłoniowo-podeszwowy - klinodaktylia |
| cs | Syndrom zahrnující keratosis palmaris et plantaris a klinodaktylii | Syndrom zahrnující palmoplantární keratoderma a klinodaktylii |
| uk | Синдром долонно-підошовного кератозу та клінодактилії | Синдром долонно-підошовної кератодермії-клінодактилії |
| zh | 掌跖角化病-指弯曲综合征 | 掌跖角化病-先天性指侧弯综合征 |
| tr | Keratoz palmaris et plantaris-klinodaktili sendromu | Palmoplantar keratoderma-klinodaktili sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 148520 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| MONDO | 0007857 | E | validated | |
| UMLS | C4510514 | 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:98352Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
rare genetic diseases; rare skin 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 | 20 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0007447 | Diffuse palmoplantar kyperkeratosis | |
| Frequent (79-30%) | ||
| HP:0000975 | Hyperhidrosis | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/86919
- This record as JSON: /data/d/86919.json