Dyssegmental dysplasia - glaucoma
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 19 |
| OrphanetNr: | 1804 |
| OMIM Id: |
601561
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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:
| Prevalence: | No data available. |
| Inheritance: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Nonsyndromic developmental defect of the eye
-Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease Rare disease with glaucoma as a major feature -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0000520) | Proptosis | 192 / 7739 | ||||
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(HPO:0000272) | Malar flattening | 277 / 7739 | ||||
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(HPO:0000260) | Wide anterior fontanel | 55 / 7739 | ||||
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(HPO:0000268) | Dolichocephaly | 144 / 7739 | ||||
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(HPO:0000175) | Cleft palate | 349 / 7739 | ||||
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(HPO:0000501) | Glaucoma | 180 / 7739 | ||||
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(HPO:0000926) | Platyspondyly | 150 / 7739 | ||||
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(HPO:0002983) | Micromelia | 130 / 7739 | ||||
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(HPO:0003273) | Hip contracture | 30 / 7739 | ||||
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(HPO:0002987) | Elbow flexion contracture | 64 / 7739 | ||||
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(HPO:0003026) | Short long bone | 51 / 7739 | ||||
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(HPO:0003015) | Flared metaphysis | 44 / 7739 | ||||
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(HPO:0002663) | Delayed epiphyseal ossification | 21 / 7739 | ||||
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(HPO:0005622) | Broad long bones | 8 / 7739 | ||||
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(OMIM) | Severe glaucoma | 1 / 7739 | ||||
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(OMIM) | Exophthalmia | 3 / 7739 | ||||
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(OMIM) | Contractures of elbow and hip | 1 / 7739 | ||||
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(OMIM) | Severe micromelia | 5 / 7739 | ||||
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(OMIM) | Short, broad long bones with flared metaphyses | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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