Chediak-Higashi syndrome

Chediak-Higashi syndrome (CHS) is a rare, severe genetic disorder marked by a range of symptoms. People with this condition can show signs of partial oculocutaneous albinism, which affects skin, hair, and eye color, along with other systemic issues. The condition can present in a classic early-onset form or a milder, later-onset form, sometimes called atypical CHS. In addition to changes in pigmentation, those affected by CHS often experience immune system challenges and may have mild bleeding issues. Neurological symptoms and problems with lymphocyte regulation have also been described. This summary provides an overview of CHS as described by trusted sources.

Common signs of Chediak-Higashi syndrome include partial albinism of the skin, hair, and eyes, severe immune problems that increase infection risk, mild bleeding problems, and neurological issues. There can also be problems related to the lymphocyte system.

Chediak-Higashi syndrome is caused by a mutation in the LYST gene. This mutation affects the body’s ability to regulate various cell functions, leading to the diverse symptoms seen in this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.