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Start free with EleplanChédiak-Higashi syndrome
ORPHA:167Disease
Also called Chédiak-Higashi disease · Chédiak-Higashi-Steinbrink syndrome
What it is
Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Childhood
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
8Common30–79%
24- Abnormal bleeding
- Abnormality of neutrophil physiology
- Abnormality of retinal pigmentation
- Abnormal natural killer cell morphology
- Abnormal platelet function
- Bruising susceptibility
- Cutaneous photosensitivity
- Decreased liver function
- Fever
- Hepatosplenomegaly
- Hypopigmentation of hair
- Immunodeficiency
- Increased circulating ferritin concentration
- Iris hypopigmentation
- Large clumps of pigment irregularly distributed along hair shaft
- Periodontitis
- Photophobia
- Recurrent bacterial skin infections
- Recurrent respiratory infections
- Recurrent staphylococcal infections
- Recurrent streptococcal infections
- Reduced visual acuity
- Rotary nystagmus
- Splenomegaly
Sometimes5–29%
43- Abnormality of the nervous system
- Anemia
- Ataxia
- Atrophy of alveolar ridges
- Atrophy of the spinal cord
- Brain atrophy
- Cerebellar atrophy
- Cognitive impairment
and 35 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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