Dermatoosteolysis, Kirghizian type
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- historical
A rare genetic disease characterized by infantile onset of recurrent skin ulcerations, arthralgias, fever, peri-articular fistulous osteolysis, oligodontia, nail dystrophy, and keratitis. The disease takes a self-limiting course in childhood but results in severe cicatrization, chronic arthroses, pseudoacromegalic appearance of hands and feet, secondary scoliosis, and visual impairment. There have been no further descriptions in the literature since 1983.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dermatoosteolysis, Kirghizian type | |
| fr | Dermato-ostéolyse type Kirghize | |
| de | Dermato-Osteolyse, kirgisischer Typ | |
| es | Dermato-osteólisis tipo Kirghize | |
| it | Dermato-osteolisi, tipo Kirghizi | |
| nl | Dermato-osteolyse, Kirgizisch type | |
| pt | Dermatosteolíse, tipo Kirghizian | |
| pl | Dermatoosteoliza typu Kirghiziana | |
| cs | Dermatoosteolýza, kyrgyzský typ | |
| uk | Дерматоостеоліз, киргизький тип | |
| zh | 皮肤骨质溶解，Kirghizian型 | |
| tr | Dermatoosteoliz, Kırgız tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 221810 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0009095 | E | validated | |
| MeSH | C535373 | E | validated | |
| UMLS | C1857301 | E | validated | |
| GARD | 1814 | 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:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; 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 | 5 cases | Worldwide | Case(s) | Validated | 6224420[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6224420[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
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000940 | Abnormal diaphysis morphology | |
| HP:0001760 | Abnormal foot morphology | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0001155 | Abnormality of the hand | |
| HP:0003019 | Abnormality of the wrist | |
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0002829 | Arthralgia | |
| HP:0001156 | Brachydactyly | |
| HP:0008391 | Dystrophic fingernails | |
| HP:0001810 | Dystrophic toenail | |
| HP:0001945 | Fever | |
| HP:0000491 | Keratitis | |
| HP:0000662 | Nyctalopia | |
| HP:0000677 | Oligodontia | |
| HP:0002758 | Osteoarthritis | |
| HP:0002797 | Osteolysis | |
| HP:0002650 | Scoliosis | |
| HP:0200042 | Skin ulcer | |
| HP:0008368 | Tarsal synostosis | |
| Frequent (79-30%) | ||
| HP:0001597 | Abnormal nail morphology | |
| Occasional (29-5%) | ||
| HP:0000164 | Abnormality of the dentition | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1657
- This record as JSON: /data/d/1657.json