ORPHA:485
Kniest dysplasia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare type 2 collagen-related bone disorder characterized by moderately severe chondrodysplasia with disproportionate short stature of prenatal onset, prominent joints with restricted mobility, large epiphyses and dumbbell deformity of the long bones. It was first described in 1952 by Dr Wilhelm Kniest, a German pediatrician.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Kniest dysplasia | |
| fr | Dysplasie de Kniest | |
| de | Kniest-Dysplasie | Kniest-Syndrom |
| es | Displasia de Kniest | |
| it | Diplasia di Kniest | |
| nl | Kniestdysplasie | |
| pt | Displasia de Kniest | |
| pl | Dysplazja Kniesta | |
| cs | Kniestova dysplázie | |
| uk | Дисплазія Кніста | |
| zh | Kniest发育异常 | |
| tr | Kniest displazisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 156550 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0007987 | E | validated | |
| MeSH | C537207 | E | validated | |
| UMLS | C0265279 | E | validated | |
| GARD | 6841 | E | validated | |
| MedDRA | 10081685 | 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 (3):
- ORPHA:138041Pierre Robin syndrome associated with collagen disease
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:93421Type 2 collagen-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 |
|---|---|---|---|---|---|---|---|---|
| COL2A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2200 | ENSG00000139219 | 120140 | 12q13.11 | collagen type II alpha 1 chain | 10406661[PMID]_15895462[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
51 annotations · validated 2020-05-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0008271 | Abnormal cartilage collagen | |
| Very frequent (99-80%) | ||
| HP:0003330 | Abnormal bone structure | |
| HP:0001367 | Abnormal joint morphology | |
| HP:0001591 | Bell-shaped thorax | |
| HP:0007964 | Degenerative vitreoretinopathy | |
| HP:0002663 | Delayed epiphyseal ossification | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0003498 | Disproportionate short stature | |
| HP:0003037 | Enlarged joints | |
| HP:0012785 | Flexion contracture of finger | |
| HP:0011003 | High myopia | |
| HP:0001387 | Joint stiffness | |
| HP:0012069 | Keratan sulfate excretion in urine | |
| HP:0000520 | Proptosis | |
| HP:0000311 | Round face | |
| HP:0007773 | Vitreoretinopathy | |
| Frequent (79-30%) | ||
| HP:0010574 | Abnormality of the epiphysis of the femoral head | |
| HP:0008063 | Aplasia/Hypoplasia of the lens | |
| HP:0009815 | Aplasia/hypoplasia of the extremities | |
| HP:0003040 | Arthropathy | |
| HP:0010646 | Cervical spine instability | |
| HP:0000175 | Cleft palate | |
| HP:0003521 | Disproportionate short-trunk short stature | |
| HP:0000947 | Dumbbell-shaped long bone | |
| HP:0010580 | Enlarged epiphyses | |
| HP:0003051 | Enlarged metaphyses | |
| HP:0000365 | Hearing impairment | |
| HP:0003311 | Hypoplasia of the odontoid process | |
| HP:0007992 | Lattice retinal degeneration | |
| HP:0003016 | Metaphyseal widening | |
| HP:0000926 | Platyspondyly | |
| HP:0000541 | Retinal detachment | |
| HP:0012230 | Rhegmatogenous retinal detachment | |
| HP:0003026 | Short long bone | |
| HP:0010306 | Short thorax | |
| Occasional (29-5%) | ||
| HP:0004557 | Anterior vertebral fusion | |
| HP:0001488 | Bilateral ptosis | |
| HP:0000518 | Cataract | |
| HP:0003417 | Coronal cleft vertebrae | |
| HP:0006454 | Delayed patellar ossification | |
| HP:0006375 | Dumbbell-shaped femur | |
| HP:0025474 | Erythematous plaque | |
| HP:0002949 | Fused cervical vertebrae | |
| HP:0012019 | Lens luxation | |
| HP:0000201 | Pierre-Robin sequence | |
| HP:0000470 | Short neck | |
| HP:0008422 | Vertebral wedging | |
| Very rare (<4-1%) | ||
| HP:0002086 | Abnormality of the respiratory system | |
| HP:0008755 | Laryngotracheomalacia | |
| HP:0000256 | Macrocephaly | |
| HP:0002176 | Spinal cord compression | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 25604898[PMID]_4214536[PMID]_2931448[PMID]_4014370[PMID]_31021589[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/485
- This record as JSON: /data/d/485.json