Recessive aplasia cutis congenita of limbs
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 8 |
| OrphanetNr: | 1115 |
| OMIM Id: |
600360
|
| ICD-10: |
Q84.8 |
| UMLs: |
C1838206 |
| MeSH: |
C536840 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 6 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic mixed dermis disorder
-Rare genetic disease Malformation syndrome with skin/mucosae involvement -Rare developmental defect during embryogenesis -Rare genetic disease Mixed dermis disorder -Rare skin disease |
Symptom Information:
|
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(HPO:0000924) | Abnormality of the skeletal system | Occasional [Orphanet] | 114 / 7739 | |||
|
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(HPO:0001770) | Toe syndactyly | Occasional [Orphanet] | 149 / 7739 | |||
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(HPO:0006101) | Finger syndactyly | Occasional [Orphanet] | 198 / 7739 | |||
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(HPO:0200042) | Skin ulcer | Occasional [Orphanet] | 138 / 7739 | |||
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(HPO:0001057) | Aplasia cutis congenita | 7 / 7739 | ||||
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(HPO:0007506) | Congenital absence of skin of limbs | 1 / 7739 | ||||
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(HPO:0008065) | Aplasia/Hypoplasia of the skin | Very frequent [Orphanet] | 81 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Freire-Maia et al. (1980) described congenital absence of skin in the upper or lower limbs or both in 6 members (5 males and 1 female) of 3 inbred sibships of the same kindred. The lesions usually healed spontaneously ... |