Craniosynostosis, Herrmann-Opitz type
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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25
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OrphanetNr:
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2145
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OMIM Id:
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ICD-10:
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Q75.0
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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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Syndromic craniosynostosis
-Rare bone disease
-Rare developmental defect during embryogenesis
-Rare genetic disease
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1
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(HPO:0000072)
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Hydroureter |
Frequent [Orphanet]
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146 / 7739
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2
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(HPO:0000795)
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Abnormality of the urethra |
Frequent [Orphanet]
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38 / 7739
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3
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(HPO:0000174)
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Abnormality of the palate |
Frequent [Orphanet]
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298 / 7739
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4
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(HPO:0003196)
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Short nose |
Frequent [Orphanet]
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264 / 7739
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5
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(HPO:0000262)
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Turricephaly |
Very frequent [Orphanet]
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38 / 7739
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6
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(HPO:0010650)
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Hypoplasia of the premaxilla |
Frequent [Orphanet]
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39 / 7739
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7
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(HPO:0000316)
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Hypertelorism |
Very frequent [Orphanet]
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644 / 7739
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8
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(HPO:0001363)
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Craniosynostosis |
Frequent [Orphanet]
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132 / 7739
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9
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(HPO:0000248)
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Brachycephaly |
Very frequent [Orphanet]
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222 / 7739
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10
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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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11
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(HPO:0000465)
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Webbed neck |
Frequent [Orphanet]
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81 / 7739
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12
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(HPO:0000444)
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Convex nasal ridge |
Frequent [Orphanet]
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87 / 7739
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13
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(HPO:0009738)
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Abnormality of the antihelix |
Frequent [Orphanet]
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37 / 7739
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14
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(HPO:0008772)
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Aplasia/Hypoplasia of the external ear |
Frequent [Orphanet]
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67 / 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:0000921)
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Missing ribs |
Frequent [Orphanet]
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62 / 7739
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17
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(HPO:0004279)
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Short palm |
Frequent [Orphanet]
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323 / 7739
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18
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(HPO:0002983)
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Micromelia |
Very frequent [Orphanet]
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130 / 7739
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19
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(HPO:0009380)
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Aplasia of the fingers |
Very frequent [Orphanet]
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51 / 7739
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20
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(HPO:0001562)
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Oligohydramnios |
Frequent [Orphanet]
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75 / 7739
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21
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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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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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23
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(HPO:0006703)
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Aplasia/Hypoplasia of the lungs |
Frequent [Orphanet]
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79 / 7739
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24
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(HPO:0012758)
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Neurodevelopmental delay |
Very frequent [Orphanet]
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949 / 7739
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25
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(HPO:0011420)
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Death |
Frequent [Orphanet]
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184 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |