Polydactyly-myopia syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
POLYDACTYLY-MYOPIA SYNDROME PMS Czeizel-Brooser syndrome |
| Number of Symptoms | 7 |
| OrphanetNr: | 2917 |
| OMIM Id: |
174310
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| ICD-10: |
Q87.2 |
| 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: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
-Rare bone disease -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0000035) | Abnormality of the testis | Frequent [Orphanet] | 296 / 7739 | |||
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(HPO:0000545) | Myopia | Very frequent [Orphanet] | 286 / 7739 | |||
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(HPO:0100259) | Postaxial polydactyly | 85 / 7739 | ||||
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(HPO:0001162) | Postaxial hand polydactyly | Very frequent [Orphanet] | 119 / 7739 | |||
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(HPO:0004299) | Hernia of the abdominal wall | Frequent [Orphanet] | 176 / 7739 | |||
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(OMIM) | Progressive myopia | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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