SPONDYLOMETAPHYSEAL DYSPLASIA, EAST AFRICAN TYPE
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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20
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OrphanetNr:
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OMIM Id:
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611702
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ICD-10:
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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:
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Prevalence:
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No data available.
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Inheritance:
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0002657)
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Spondylometaphyseal dysplasia |
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12 / 7739
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2
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(HPO:0002970)
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Genu varum |
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60 / 7739
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3
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(HPO:0006026)
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Rounded epiphyses |
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2 / 7739
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4
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(HPO:0002812)
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Coxa vara |
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58 / 7739
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5
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(HPO:0003300)
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Ovoid vertebral bodies |
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21 / 7739
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6
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(HPO:0001591)
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Bell-shaped thorax |
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35 / 7739
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7
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(HPO:0003016)
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Metaphyseal widening |
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41 / 7739
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8
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(HPO:0001156)
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Brachydactyly syndrome |
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180 / 7739
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9
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(HPO:0003026)
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Short long bone |
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51 / 7739
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10
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(HPO:0008873)
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Disproportionate short-limb short stature |
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39 / 7739
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11
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(HPO:0003498)
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Disproportionate short stature |
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28 / 7739
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12
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(OMIM)
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Longitudinal metaphyseal spurs |
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1 / 7739
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13
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(OMIM)
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Delayed ischiopubic ossification |
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1 / 7739
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14
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(OMIM)
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Widened pubic symphysis |
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1 / 7739
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15
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(OMIM)
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Wide, round iliac wings |
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1 / 7739
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16
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(OMIM)
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Wide, bracket-shaped metaphyses |
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1 / 7739
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17
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(OMIM)
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Small, rounded epiphyses |
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1 / 7739
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18
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(OMIM)
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Dense, irregular pelvic rim ('lacy' appearance) |
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1 / 7739
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19
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(OMIM)
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Irregular metacarpal metaphyses |
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1 / 7739
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20
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(MedDRA:10072883)
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Brachydactyly |
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153 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |