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syndromic oculocutaneous albinism - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

syndromic oculocutaneous albinism

MONDO:0017305

Also known as:syndrome associated with oculocutaneous albinism

Overview

A oculocutaneous albinism that is part of a larger syndrome.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism (OCA), immunodeficiency, and a mild bleeding tendency. These features are present in nearly all individuals with CHS but to a very variable degree. Affected individuals with severe presentations (i.e., OCA; early-onset, recurrent, severe infections; and a bleeding diathesis) are considered to have "classic" CHS. Individuals with milder phenotypes (e.g., later-onset, milder pigmentary, immunologic, and hematologic features) are considered to have "atypical" CHS (also referred to as "mild" or "adolescent" CHS).

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

The diagnosis of Chediak-Higashi syndrome (CHS) should be suspected in a proband with any of the following clinical features, supportive laboratory findings, and family history.

Clinical features

Source: GeneReviews — "Chediak-Higashi Syndrome"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for syndromic oculocutaneous albinism. The disease remains an area of unmet medical need.

Gene therapy approaches for syndromic oculocutaneous albinism have been reported in the published literature.

GeneReviews

Management Guidelines

No clinical practice guidelines for Chediak-Higashi syndrome (CHS) have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.

Evaluations Following Initial Diagnosis

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations in are recommended.

Table 6.

Chediak-Higashi Syndrome: Recommended Surveillance

System/Concern | Evaluation | Frequency

Ocular

| Ophthalmologic exam | At least annually or as directed by treating ophthalmologist

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for syndromic oculocutaneous albinism.

51 publications have been identified in PubMed for syndromic oculocutaneous albinism. Research spans Case Report / Case Series (43%), Basic Science / Preclinical (33%), and Review / Meta-Analysis (12%).

Research Type	Count	% of Total
Patient case studies	22	43%

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 11:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:284811

GARD

Genetic and Rare Diseases Info Center

GARD:21125

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

syndromic oculocutaneous albinism

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Ocular

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Ophthalmologic

Immunologic

Bleeding disorder

Neurologic

Cognitive impairment

Adult

Clinical Trials

Hematology/Oncology

Education

Cognitive issues

Neurologic

Musculoskeletal

Family/Community

Recent Publications

syndromic oculocutaneous albinism

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Ocular

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Ophthalmologic

Immunologic

Bleeding disorder

Neurologic

Cognitive impairment

Adult

Clinical Trials

Hematology/Oncology

Education

Cognitive issues

Neurologic

Musculoskeletal

Family/Community

Recent Publications