Metaphyseal chondrodysplasia, Kaitila type
historical
- Type
- Disease
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Metaphyseal chondrodysplasia, Kaitila type | |
| fr | Chondrodysplasie métaphysaire type Kaitila | |
| de | Chondrodysplasie, metaphysäre, Typ Kaitila | |
| es | Condrodisplasia metafisaria tipo Kaitila | |
| it | Condrodisplasia metafisaria, tipo Kaitila | |
| nl | Metafysaire chondrodysplasie, Kaitila-type | |
| pt | Condrodisplasia metafisária, tipo Kaitila | |
| pl | Metafyzealna chondrodysplazja, typu Kaitila'a | |
| cs | Metafyzární chondrodysplázie, Kaitilův typ | |
| uk | Метафізарна хондродисплазія, тип Кайтіла | |
| zh | Kaitila 型骺板软骨发育不良 | |
| tr | Metafizeal kondrodisplazi, Kaitila tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 250230 | E | validated | |
| ICD-10 | Q78.5 | NTBT | attributed | validated |
| ICD-11 | LD24.7 | NTBT | attributed | validated |
| MONDO | 0009594 | E | validated | |
| MeSH | C565400 | E | validated | |
| UMLS | C1855217 | 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:93430Multiple metaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone 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 | 2 cases | Worldwide | Case(s) | Validated | 6979929[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6979929[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/166038
- This record as JSON: /data/d/166038.json