Kyphomelic dysplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare primary bone dysplasia characterized, radiologically, by short, stubby long bones, severely angulated femurs and lesser bowing of other long bones (mild, moderate or no bowing), short and wide iliac wings with horizontal acetabular roofs, platyspondyly and a narrow thorax, clinically manifesting with severe, disproportionate short stature. Regression of femora angulation is observed with advancing age.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Kyphomelic dysplasia | |
| fr | Dysplasie kyphomélique | |
| de | Dysplasie, kyphomele | |
| es | Displasia cifomélica | |
| it | Displasia cifomelica | |
| nl | Kyfomelische dysplasie | |
| pt | Displasia cifomélica | |
| pl | Dysplazja kifomeliczna | |
| cs | Kyfomelická dysplázie | |
| uk | Кіфомелічна дисплазія | |
| zh | 脊柱后凸发育不良 | |
| tr | Kifomelik displazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 211350 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.C | NTBT | index | validated |
| MONDO | 0008881 | E | validated | |
| MeSH | C538128 | E | validated | |
| UMLS | C0432239 | E | validated | |
| GARD | 10149 | 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:93439Campomelic dysplasia and related disorders
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
0 recordsNo prevalence record in this release.
HPO phenotypes
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0000907 | Anterior rib cupping | |
| HP:0006487 | Bowing of the long bones | |
| HP:0003498 | Disproportionate short stature | |
| HP:0002983 | Micromelia | |
| HP:0000774 | Narrow chest | |
| HP:0010306 | Short thorax | |
| HP:0010561 | Undulate ribs | |
| Frequent (79-30%) | ||
| HP:0003180 | Flat acetabular roof | |
| HP:0012368 | Flat face | |
| HP:0001387 | Joint stiffness | |
| HP:0000895 | Lateral clavicle hook | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000347 | Micrognathia | |
| HP:0000921 | Missing ribs | |
| Occasional (29-5%) | ||
| HP:0001252 | Hypotonia | |
| HP:0001176 | Large hands | |
Run the differential on the 9 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1801
- This record as JSON: /data/d/1801.json