Amniotic bands
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Amniotic deformity - adhesion - mutilation syndrome ADAM syndrome |
| Number of Symptoms | 10 |
| OrphanetNr: | 1034 |
| OMIM Id: |
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| ICD-10: |
Q79.8 |
| UMLs: |
C1527388 |
| MeSH: |
D000652 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 4 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal recessive Unknown Not applicable [Orphanet] |
| Age of onset: |
Antenatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Terminal limb defects
-Rare bone disease -Rare developmental defect during embryogenesis |
Symptom Information:
|
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(HPO:0001762) | Talipes equinovarus | Very frequent [Orphanet] | 309 / 7739 | |||
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(HPO:0002818) | Abnormality of the radius | Frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0002650) | Scoliosis | Frequent [Orphanet] | 705 / 7739 | |||
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(HPO:0006101) | Finger syndactyly | Very frequent [Orphanet] | 198 / 7739 | |||
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(HPO:0009380) | Aplasia of the fingers | Very frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0001562) | Oligohydramnios | Frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0009775) | Amniotic constriction ring | Very frequent [Orphanet] | 21 / 7739 | |||
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(HPO:0001004) | Lymphedema | Frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0006703) | Aplasia/Hypoplasia of the lungs | Frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0040065) | Abnormal morphology of bones of the upper limbs | Very frequent [Orphanet] | 25 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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