De Barsy syndrome

Not yet reviewed

This information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.

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

ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.

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

Primary care

  • Recommendation 1

    Early developmental intervention, physiotherapy, avoidance of environmental triggers (e.g. sunbathing)

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

Clinical Trials

Sources

No data available

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