Familial clubfoot with or without associated lower limb anomalies
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 5 |
| OrphanetNr: | 199315 |
| OMIM Id: |
119800
613618 |
| ICD-10: |
Q66.8 |
| 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: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Dysostosis with limb anomaly as a major feature
-Rare bone disease -Rare developmental defect during embryogenesis Syndrome with limb malformations as a major feature -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0001829) | Foot polydactyly | rare [HPO:skoehler] | 41 / 7739 | |||
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(HPO:0001762) | Talipes equinovarus | 309 / 7739 | ||||
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(HPO:0003065) | Patellar hypoplasia | rare [HPO:skoehler] | 8 / 7739 | |||
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(HPO:0003829) | Incomplete penetrance | 85 / 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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