Primary care
Recommendation 1
Symptomatic care
ZC4H2-Associated Rare Disorders (ZARD)
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
Disease overview
Ultra-rare genetic condition with central and peripheral nervous system involvement caused by harmful mutations of the ZC4H2 gene.
Common symptoms
Contractures and deformities of foot jointsmuscle degenerationmild intellectual disabilityspasticityand seizures.
When to suspect
Recommendation 1
Genetic analysis showing ZC4H2 gene deletion
How to test
Recommendation 1
Genetic analysis showing ZC4H2 gene deletion
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
Symptomatic care
Further support
Recommendation 1
Medical team of internists and pediatricians should include a genetic counselor. 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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