Spondyloepiphyseal dysplasia, Kimberley type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SEDK |
| Number of Symptoms | 20 |
| OrphanetNr: | 93283 |
| OMIM Id: |
608361
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| ICD-10: |
Q77.7 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 1 family [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Aggrecan-related bone disorder
-Rare genetic disease Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia -Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0005930) | Abnormality of epiphysis morphology | Very frequent [Orphanet] | 119 / 7739 | |||
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(HPO:0002970) | Genu varum | 60 / 7739 | ||||
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(HPO:0003370) | Flat capital femoral epiphysis | 15 / 7739 | ||||
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(HPO:0003312) | Abnormal form of the vertebral bodies | Very frequent [Orphanet] | 172 / 7739 | |||
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(HPO:0002983) | Micromelia | Very frequent [Orphanet] | 130 / 7739 | |||
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(HPO:0002857) | Genu valgum | 144 / 7739 | ||||
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(HPO:0002655) | Spondyloepiphyseal dysplasia | 21 / 7739 | ||||
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(HPO:0005257) | Thoracic hypoplasia | Very frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0002750) | Delayed skeletal maturation | 250 / 7739 | ||||
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(HPO:0002652) | Skeletal dysplasia | Very frequent [Orphanet] | 113 / 7739 | |||
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(HPO:0000926) | Platyspondyly | 150 / 7739 | ||||
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(HPO:0002758) | Osteoarthritis | Very frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0003508) | Proportionate short stature | 12 / 7739 | ||||
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(OMIM) | Vertebral end plate irregularity | 1 / 7739 | ||||
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(OMIM) | Anterior osteophytes | 2 / 7739 | ||||
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(OMIM) | Sclerotic vertebral bodies | 1 / 7739 | ||||
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(OMIM) | Stocky body habitus | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Progressive osteoarthropathy (early-onset) | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Anderson et al. (1990) described a mild autosomal dominant type of spondyloepiphyseal dysplasia, designated SED type Kimberley (SEDK), in a South African family of English stock. Patients with SEDK had proportionate short stature (below the fifth centile for ... |