Camptodactyly - joint contractures - facial skeletal defects
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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22
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OrphanetNr:
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1323
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OMIM Id:
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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
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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:0000520)
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Proptosis |
Very frequent [Orphanet]
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192 / 7739
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2
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(HPO:0002705)
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High, narrow palate |
Very frequent [Orphanet]
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308 / 7739
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3
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(HPO:0000341)
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Narrow forehead |
Very frequent [Orphanet]
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96 / 7739
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4
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(HPO:0011331)
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Hemifacial atrophy |
Very frequent [Orphanet]
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79 / 7739
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5
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(HPO:0000277)
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Abnormality of the mandible |
Very frequent [Orphanet]
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394 / 7739
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6
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(HPO:0000248)
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Brachycephaly |
Very frequent [Orphanet]
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222 / 7739
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7
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(HPO:0002162)
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Low posterior hairline |
Very frequent [Orphanet]
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88 / 7739
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8
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(HPO:0000160)
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Narrow mouth |
Very frequent [Orphanet]
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188 / 7739
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9
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(HPO:0000348)
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High forehead |
Very frequent [Orphanet]
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157 / 7739
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10
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(HPO:0000508)
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Ptosis |
Very frequent [Orphanet]
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459 / 7739
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11
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(HPO:0000486)
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Strabismus |
Very frequent [Orphanet]
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576 / 7739
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12
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(HPO:0001385)
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Hip dysplasia |
Very frequent [Orphanet]
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242 / 7739
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13
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(HPO:0002650)
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Scoliosis |
Very frequent [Orphanet]
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705 / 7739
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14
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(HPO:0003307)
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Hyperlordosis |
Very frequent [Orphanet]
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122 / 7739
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15
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(HPO:0006101)
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Finger syndactyly |
Very frequent [Orphanet]
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198 / 7739
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16
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(HPO:0003422)
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Vertebral segmentation defect |
Very frequent [Orphanet]
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95 / 7739
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17
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(HPO:0100490)
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Camptodactyly of finger |
Very frequent [Orphanet]
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212 / 7739
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18
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(HPO:0001387)
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Joint stiffness |
Very frequent [Orphanet]
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322 / 7739
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19
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(HPO:0005048)
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Synostosis of carpal bones |
Very frequent [Orphanet]
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39 / 7739
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20
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(HPO:0100555)
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Asymmetric growth |
Very frequent [Orphanet]
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25 / 7739
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21
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(HPO:0001511)
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Intrauterine growth retardation |
Frequent [Orphanet]
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358 / 7739
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22
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(HPO:0004322)
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Short stature |
Very frequent [Orphanet]
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1232 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |