Marfanoid syndrome, De Silva type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 9 |
| OrphanetNr: | 2464 |
| OMIM Id: |
223330
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| ICD-10: |
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| 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 recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Syndromic intestinal malformation
-Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0000015) | Bladder diverticulum | 15 / 7739 | ||||
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(HPO:0000541) | Retinal detachment | 87 / 7739 | ||||
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(HPO:0000545) | Myopia | 286 / 7739 | ||||
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(HPO:0000486) | Strabismus | 576 / 7739 | ||||
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(HPO:0000023) | Inguinal hernia | 181 / 7739 | ||||
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(HPO:0002253) | Colonic diverticula | 12 / 7739 | ||||
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(HPO:0100541) | Femoral hernia | 7 / 7739 | ||||
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(HPO:0002256) | Small bowel diverticula | 6 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Clunie and Mason (1962) described a seemingly distinct disorder in 3 brothers whose parents were first cousins. All had recurrent femoral and/or inguinal hernias and diverticula of the large and small bowel or urinary bladder. Two of the ... |