Macular coloboma - cleft palate - hallux valgus
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 13 |
| OrphanetNr: | 91494 |
| OMIM Id: |
216800
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| ICD-10: |
Q87.8 |
| 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: | 2 cases [Orphanet] |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Colobomatous and areolar dystrophy
-Rare eye disease -Rare genetic disease Orofacial clefting syndrome -Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease -Rare otorhinolaryngologic disease Syndromic developmental defect of the eye -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0000175) | Cleft palate | 349 / 7739 | ||||
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(HPO:0000340) | Sloping forehead | 86 / 7739 | ||||
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(HPO:0001116) | Macular coloboma | 6 / 7739 | ||||
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(HPO:0000639) | Nystagmus | 555 / 7739 | ||||
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(HPO:0000540) | Hypermetropia | 99 / 7739 | ||||
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(HPO:0009184) | Contracture of the distal interphalangeal joint of the 5th finger | 1 / 7739 | ||||
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(HPO:0001822) | Hallux valgus | 70 / 7739 | ||||
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(HPO:0005001) | Recurrent patellar dislocation | 4 / 7739 | ||||
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(HPO:0002857) | Genu valgum | 144 / 7739 | ||||
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(HPO:0002673) | Coxa valga | 57 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Flexion deformity of fifth finger distal interphalangeal joint | 1 / 7739 | ||||
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(OMIM) | Short 2nd and 4th digits | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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