Eye defects - arachnodactyly - cardiopathy
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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23
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OrphanetNr:
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2725
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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:0000316)
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Hypertelorism |
Very frequent [Orphanet]
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644 / 7739
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2
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(HPO:0012368)
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Flat face |
Very frequent [Orphanet]
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106 / 7739
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3
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(HPO:0000174)
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Abnormality of the palate |
Very frequent [Orphanet]
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298 / 7739
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4
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(HPO:0000204)
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Cleft upper lip |
Very frequent [Orphanet]
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193 / 7739
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5
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(HPO:0000269)
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Prominent occiput |
Very frequent [Orphanet]
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43 / 7739
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6
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(HPO:0004437)
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Cranial hyperostosis |
Very frequent [Orphanet]
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55 / 7739
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7
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(HPO:0000518)
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Cataract |
Very frequent [Orphanet]
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454 / 7739
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8
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(HPO:0000357)
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Abnormal location of ears |
Very frequent [Orphanet]
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328 / 7739
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9
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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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10
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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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11
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(HPO:0002974)
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Radioulnar synostosis |
Very frequent [Orphanet]
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52 / 7739
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12
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(HPO:0006487)
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Bowing of the long bones |
Very frequent [Orphanet]
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95 / 7739
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13
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(HPO:0001852)
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Sandal gap |
Very frequent [Orphanet]
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63 / 7739
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14
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(HPO:0004209)
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Clinodactyly of the 5th finger |
Very frequent [Orphanet]
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288 / 7739
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15
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(HPO:0011302)
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Long palm |
Very frequent [Orphanet]
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70 / 7739
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16
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(HPO:0100759)
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Clubbing of fingers |
Very frequent [Orphanet]
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40 / 7739
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17
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(HPO:0002818)
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Abnormality of the radius |
Very frequent [Orphanet]
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96 / 7739
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18
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(HPO:0011867)
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Abnormality of the wing of the ilium |
Very frequent [Orphanet]
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123 / 7739
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19
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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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20
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(HPO:0001511)
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Intrauterine growth retardation |
Very frequent [Orphanet]
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358 / 7739
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21
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(HPO:0030680)
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Abnormality of cardiovascular system morphology |
Very frequent [Orphanet]
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355 / 7739
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22
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(HPO:0006703)
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Aplasia/Hypoplasia of the lungs |
Very frequent [Orphanet]
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79 / 7739
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23
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(HPO:0011420)
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Death |
Very frequent [Orphanet]
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184 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |