Overview
Oculocerebral hypopigmentation syndrome, Cross type (also known as Cross syndrome or Cross-McKusick-Breen syndrome) is an extremely rare genetic disorder characterized by the combination of hypopigmentation of the skin and hair, ocular abnormalities, and severe central nervous system dysfunction. The condition was first described by Cross, McKusick, and Breen in 1967 in an Amish family. The syndrome primarily affects the integumentary system (skin and hair), the eyes, and the brain. Key clinical features include generalized hypopigmentation (very light skin and silvery-white or light-colored hair), severe ocular anomalies such as microphthalmos (abnormally small eyes), corneal clouding, and nystagmus. Neurological involvement is prominent and includes severe intellectual disability, spasticity, and athetoid movements (involuntary writhing movements). Growth retardation may also be present. The ocular and neurological manifestations typically lead to significant functional impairment from early life. There is currently no cure or specific treatment for Cross syndrome. Management is supportive and symptomatic, focusing on addressing individual clinical manifestations such as seizure control, physical therapy for spasticity, visual rehabilitation where possible, and developmental support. Due to the extreme rarity of this condition, with only a handful of cases reported in the medical literature, knowledge about the full clinical spectrum and natural history remains limited.
Also known as:
Clinical phenotype terms— hover any for plain English:
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
10 eventsCentre hospitalier de l'Université de Montréal (CHUM) — PHASE1, PHASE2
University of Calgary — PHASE2
Anne E Ray — NA
Marmara University
Shanghai Yueyang Integrated Medicine Hospital
Ankara Etlik City Hospital
Hiroshima University — NA
Riphah International University — NA
Cairo University
Radboud University Medical Center — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Oculocerebral hypopigmentation syndrome, Cross type.
11 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Oculocerebral hypopigmentation syndrome, Cross type.
Community
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Start the conversation →Latest news about Oculocerebral hypopigmentation syndrome, Cross type
Disease timeline:
New recruiting trial: Ventilator Associated Pneumonia Multiplex PCR for Anti-Infective Regimens
A new clinical trial is recruiting patients for Oculocerebral hypopigmentation syndrome, Cross type
New recruiting trial: Nationwide Uniform Scientific Evaluation of Flexible and Integrated Treatment Projects From 2022 Onwards
A new clinical trial is recruiting patients for Oculocerebral hypopigmentation syndrome, Cross type
New recruiting trial: The Impact of Metabolic Status on Pain and Central Sensitization in Women With Lipedema: A Cross-Sectional Observational Study
A new clinical trial is recruiting patients for Oculocerebral hypopigmentation syndrome, Cross type
New recruiting trial: Jockey Club Support Project
A new clinical trial is recruiting patients for Oculocerebral hypopigmentation syndrome, Cross type
New recruiting trial: Childhood Early Oral Aging Syndrome: Prevalence, Etiological Factors, and Consequences on Occlusion
A new clinical trial is recruiting patients for Oculocerebral hypopigmentation syndrome, Cross type
New recruiting trial: Two Bedside Ultrasound Techniques and Standard Methods for Confirmation of Endotracheal Tube Insertion in Intensive Care Patients
A new clinical trial is recruiting patients for Oculocerebral hypopigmentation syndrome, Cross type
New recruiting trial: Long-term Alterations of Host-microbiome Interactions and Cardiovascular and Respiratory Diseases Progression After Pneumonia
A new clinical trial is recruiting patients for Oculocerebral hypopigmentation syndrome, Cross type
New recruiting trial: Effect of Implementing Evidence-based Practice and Nurse's Behavior Change on Quality of Care in Intensive Care Unit: Focus on Ventilator Associated Pneumonia in a Tertiary Hospital in Bangladesh
A new clinical trial is recruiting patients for Oculocerebral hypopigmentation syndrome, Cross type
New recruiting trial: Dynamic Airway Resistance & ML: Guide Sputum Suction in Ventilated Patients
A new clinical trial is recruiting patients for Oculocerebral hypopigmentation syndrome, Cross type
New recruiting trial: Sleeping Position Study in COPD Patients
A new clinical trial is recruiting patients for Oculocerebral hypopigmentation syndrome, Cross type
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Common questions about Oculocerebral hypopigmentation syndrome, Cross type
What is Oculocerebral hypopigmentation syndrome, Cross type?
Oculocerebral hypopigmentation syndrome, Cross type (also known as Cross syndrome or Cross-McKusick-Breen syndrome) is an extremely rare genetic disorder characterized by the combination of hypopigmentation of the skin and hair, ocular abnormalities, and severe central nervous system dysfunction. The condition was first described by Cross, McKusick, and Breen in 1967 in an Amish family. The syndrome primarily affects the integumentary system (skin and hair), the eyes, and the brain. Key clinical features include generalized hypopigmentation (very light skin and silvery-white or light-colored
How is Oculocerebral hypopigmentation syndrome, Cross type inherited?
Oculocerebral hypopigmentation syndrome, Cross type follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Oculocerebral hypopigmentation syndrome, Cross type typically begin?
Typical onset of Oculocerebral hypopigmentation syndrome, Cross type is neonatal. Age of onset can vary across affected individuals.
Are there clinical trials for Oculocerebral hypopigmentation syndrome, Cross type?
Yes — 11 recruiting clinical trials are currently listed for Oculocerebral hypopigmentation syndrome, Cross type on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Oculocerebral hypopigmentation syndrome, Cross type?
25 specialists and care centers treating Oculocerebral hypopigmentation syndrome, Cross type are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.