Chediak-Higashi syndrome: Symptoms, Diagnosis and Treatment
By Dr. Miguel Gordon, DO · · Genetic Medicine
Our Genetic Medicine team put together this overview of Chediak-Higashi syndrome for patients and families.
About this topic
Topic: Chediak-Higashi syndrome. A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST) on chromosome 1q42.
Related care
- micronutrient supplementation
- substrate reduction therapy
- tocolytic agent therapy
- salivary cortisol test
- chromosomal microarray testing
- clinical whole genome sequencing
Always talk with your care team before making decisions about your health. This content is educational only.