Scalp defects - postaxial polydactyly
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 7 |
| OrphanetNr: | 1003 |
| OMIM Id: |
181250
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| ICD-10: |
Q87.2 |
| UMLs: |
C1867021 |
| MeSH: |
C536622 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 2 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic mixed dermis disorder
-Rare genetic disease Mixed dermis disorder -Rare skin disease Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy -Rare bone disease -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0001362) | Calvarial skull defect | Frequent [Orphanet] | 22 / 7739 | |||
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(HPO:0002084) | Encephalocele | Frequent [Orphanet] | 70 / 7739 | |||
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(HPO:0001162) | Postaxial hand polydactyly | Very frequent [Orphanet] | 119 / 7739 | |||
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(HPO:0005696) | Postaxial polydactyly type A | 1 / 7739 | ||||
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(HPO:0001006) | Hypotrichosis | Frequent [Orphanet] | 219 / 7739 | |||
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(HPO:0007385) | Aplasia cutis congenita of scalp | 10 / 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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