ORPHA:93314
Spondylometaphyseal dysplasia, Kozlowski type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy
- Status
- active
Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondylometaphyseal dysplasia, Kozlowski type | |
| fr | Dysplasie spondylo-métaphysaire type Kozlowski | |
| de | Dysplasie, spondylometaphysäre, Typ Kozlowski | |
| es | Displasia espondilometafisaria tipo Kozlowski | |
| it | Displasia spondilometafisaria, tipo Kozlowski | |
| nl | Spondylometafysaire dysplasie, Kozlowski-type | |
| pt | Displasia espondilometafisária, tipo Kozlowski | |
| pl | Dysplazja kręgosłupowo-przynasadowa typu Kozlowskiego | |
| cs | Spondylometafyzární dysplázie, Kozlowskeho typ | |
| uk | Спондилометафізарна дисплазія, тип Козловського | |
| zh | 脊椎干骺端发育不良， Kozlowski 型 | |
| tr | Spondilometafizyal displazi, Kozlowski tipi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 184252 | E | validated | |
| ICD-10 | Q77.8 | NTBT | attributed | validated |
| ICD-11 | LD24.4 | NTBT | index | validated |
| MONDO | 0008477 | E | validated | |
| MeSH | C535797 | E | validated | |
| UMLS | C0265280 | E | validated | |
| GARD | 3047 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:254Spondylometaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:364820TRPV4-related bone disorder
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRPV4 | Disease-causing germline mutation(s) in | Assessed | HGNC:18083 | ENSG00000111199 | 605427 | 12q24.11 | transient receptor potential cation channel subfamily V member 4 | 24830047[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
45 annotations · validated 2021-08-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000925 | Abnormality of the vertebral column | |
| HP:0002663 | Delayed epiphyseal ossification | |
| HP:0003521 | Disproportionate short-trunk short stature | |
| HP:0001510 | Growth delay | |
| HP:0000926 | Platyspondyly | |
| Frequent (79-30%) | ||
| HP:0003336 | Abnormal enchondral ossification | |
| HP:0003170 | Abnormality of the acetabulum | |
| HP:0002867 | Abnormality of the ilium | |
| HP:0001156 | Brachydactyly | |
| HP:0001498 | Carpal bone hypoplasia | |
| HP:0002812 | Coxa vara | |
| HP:0002869 | Flared iliac wings | |
| HP:0001288 | Gait disturbance | |
| HP:0002970 | Genu varum | |
| HP:0003016 | Metaphyseal widening | |
| HP:0003088 | Premature osteoarthritis | |
| HP:0002650 | Scoliosis | |
| HP:0003510 | Severe short stature | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0010743 | Short metatarsal | |
| HP:0005819 | Short middle phalanx of finger | |
| HP:0001831 | Short toe | |
| HP:0001248 | Short tubular bones of the hand | |
| HP:0003177 | Squared iliac bones | |
| HP:0002515 | Waddling gait | |
| Occasional (29-5%) | ||
| HP:0003907 | Abnormality of the humeral metaphyses | |
| HP:0003059 | Abnormality of the radioulnar joints | |
| HP:0010228 | Absent epiphyses of the phalanges of the hand | |
| HP:0004558 | Cervical platyspondyly | |
| HP:0003417 | Coronal cleft vertebrae | |
| HP:0003180 | Flat acetabular roof | |
| HP:0030289 | Flattened femoral epiphysis | |
| HP:0001288 | Gait disturbance | |
| HP:0003311 | Hypoplasia of the odontoid process | |
| HP:0030320 | Increased intervertebral space | |
| HP:0002808 | Kyphosis | |
| HP:0003121 | Limb joint contracture | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0000768 | Pectus carinatum | |
| HP:0002986 | Radial bowing | |
| HP:0000914 | Shield chest | |
| HP:0100864 | Short femoral neck | |
| HP:0003185 | Short greater sciatic notch | |
| HP:0002942 | Thoracic kyphosis | |
| HP:0008422 | Vertebral wedging | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 28687525 [PMID]_24830047[PMID]_33774370[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93314
- This record as JSON: /data/d/93314.json