ORPHA:85175
Astley-Kendall dysplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Astley-Kendall dysplasia | |
| fr | Dysplasie type Astley-Kendall | |
| de | Astley-Kendall-Dysplasie | |
| es | Displasia de Astley-Kendall | |
| it | Displasia, tipo Astley-Kendall | |
| nl | Astley-Kendall-dysplasie | |
| pt | Displasia de Astley-Kendall | |
| pl | Dysplazja Astley'a i Kendalla | |
| cs | Astleyho-Kendallův syndrom | Astley-Kendallův syndrom |
| uk | Дисплазія Естлі-Кендалла | |
| zh | Astley-Kendall发育不良 | |
| tr | Astley-Kendall displazisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q77.3 | NTBT | attributed | validated |
| ICD-11 | LD24.04 | NTBT | index | validated |
| MONDO | 0019408 | E | validated | |
| MeSH | C535392 | E | validated | |
| UMLS | C1300228 | 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 (1):
- ORPHA:93442Chondrodysplasia punctata
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 9643294[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9643294[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.
6
HPO phenotypes
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002703 | Abnormality of skull ossification | |
| HP:0008873 | Disproportionate short-limb short stature | |
| HP:0010655 | Epiphyseal stippling | |
| HP:0002983 | Micromelia | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 9643294[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85175
- This record as JSON: /data/d/85175.json