Familial osteodysplasia, Anderson type
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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24
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OrphanetNr:
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2769
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OMIM Id:
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259250
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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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Autosomal recessive inheritance
[Omim]
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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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Dysostosis with predominant craniofacial involvement
-Rare bone disease
-Rare developmental defect during embryogenesis
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1
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(HPO:0000574)
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Thick eyebrow |
Very frequent [Orphanet]
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96 / 7739
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2
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(HPO:0005105)
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Abnormal nasal morphology |
Very frequent [Orphanet]
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114 / 7739
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3
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(HPO:0000307)
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Pointed chin |
Very frequent [Orphanet]
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45 / 7739
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4
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(HPO:0000670)
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Carious teeth |
Frequent [Orphanet]
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145 / 7739
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5
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(HPO:0010650)
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Hypoplasia of the premaxilla |
Very frequent [Orphanet]
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39 / 7739
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6
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(HPO:0000303)
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Mandibular prognathia |
Very frequent [Orphanet]
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179 / 7739
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7
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(HPO:0000164)
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Abnormality of the teeth |
Very frequent [Orphanet]
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291 / 7739
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8
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(HPO:0000457)
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Depressed nasal ridge |
Very frequent [Orphanet]
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85 / 7739
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9
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(HPO:0000272)
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Malar flattening |
Very frequent [Orphanet]
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277 / 7739
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10
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(HPO:0009748)
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Large earlobe |
Very frequent [Orphanet]
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27 / 7739
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11
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(HPO:0001250)
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Seizures |
Occasional [Orphanet]
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1245 / 7739
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12
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(HPO:0003312)
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Abnormal form of the vertebral bodies |
Frequent [Orphanet]
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172 / 7739
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13
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(HPO:0002808)
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Kyphosis |
Very frequent [Orphanet]
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289 / 7739
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14
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(HPO:0000772)
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Abnormality of the ribs |
Frequent [Orphanet]
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146 / 7739
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15
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(HPO:0004209)
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Clinodactyly of the 5th finger |
Frequent [Orphanet]
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288 / 7739
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16
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(HPO:0002823)
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Abnormality of the femur |
Very frequent [Orphanet]
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61 / 7739
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17
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(HPO:0000921)
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Missing ribs |
Frequent [Orphanet]
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62 / 7739
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18
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(HPO:0003103)
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Abnormal cortical bone morphology |
Very frequent [Orphanet]
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38 / 7739
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19
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(HPO:0006660)
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Aplastic clavicles |
Very frequent [Orphanet]
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70 / 7739
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20
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(HPO:0002659)
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Increased susceptibility to fractures |
Very frequent [Orphanet]
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110 / 7739
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21
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(HPO:0002650)
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Scoliosis |
Very frequent [Orphanet]
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705 / 7739
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22
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(HPO:0003042)
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Elbow dislocation |
Occasional [Orphanet]
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89 / 7739
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23
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(HPO:0000822)
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Hypertension |
Very frequent [Orphanet]
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224 / 7739
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24
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(HPO:0002149)
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Hyperuricemia |
Very frequent [Orphanet]
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37 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |