ORPHA:167
Chédiak-Higashi syndrome
Also called Chédiak-Higashi disease, Chédiak-Higashi-Steinbrink syndrome
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Childhood
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:167 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Hypopigmentation of the skin
- Abnormal leukocyte morphology
- Vacuolated lymphocytes
- Recurrent bacterial infections
- Recurrent infections
- Abnormality of multiple cell lineages in the bone marrow