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| Disease found: | De Barsy syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | Genetic disorder that affects connective tissue leading to loose, sagging, inelastic skin (more info) |
| Signs and Symptoms: | Prematurely-aged appearance, loose wrinkled skin without elasticity, eye abnormalities, growth retardation, intellectual disability, distinctive facial features including frontal bossing, hypertelorism, a small upturned nose, and large malformed ears, hypotonia, microcephaly |
| Diagnosis: | Biopsy of affected skin can reveal characteristic changes in elastic fibers and molecular genetic testing can confirm a diagnosis of inherited cutis laxa. Purine synthesis defect metabolites should also be screened for in case of ALDH18A1 mutation-related cases |
| Treatment: | Surgery can repair skeletal problems, ocular abnormalities, and hernias. Individuals with ALDH18A1-related de Barsy syndrome should be treated by ammonia scavengers as well as supplementation with citrulline or arginine |
| Clinical Management: | Early developmental intervention, physiotherapy, avoidance of environmental triggers (e.g. sunbathing) |
| Referral: | Pediatricians, surgeons, dermatologists, orthopedists, neurologists, ophthalmologists. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | No clinical trials currently recruiting |