PRIMARY CARE
Recommendation 1
Early developmental intervention, physiotherapy, avoidance of environmental triggers (e.g. sunbathing)
De Barsy syndrome
Not Verified
Disease overview
Genetic disorder that affects connective tissue leading to loose, sagging, inelastic skin (more info)
Common symptoms
Prematurely-aged appearanceloose wrinkled skin without elasticityeye abnormalitiesgrowth retardationintellectual disabilitydistinctive facial features including frontal bossinghypertelorisma small upturned noseand large malformed earshypotoniamicrocephaly
WHEN TO SUSPECT
Recommendation 1
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
HOW TO TEST
Recommendation 1
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
Recommendation 1
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
FURTHER SUPPORT
Recommendation 1
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
Recommendation 1
No clinical trials currently recruiting
Sources
No data available
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