Overview
X-linked cerebral-cerebellar-coloboma syndrome is an extremely rare genetic condition that primarily affects males. The name describes its three main features: problems with the brain (cerebral), the part of the brain that controls balance and coordination (cerebellar), and gaps or holes in parts of the eye (coloboma). Because it is X-linked, the faulty gene is located on the X chromosome, which means it mainly affects boys and men, while females may be carriers who show milder or no symptoms. Children with this syndrome typically show developmental delays, intellectual disability, and problems with movement and coordination due to abnormal development of the cerebellum. The eye colobomas can affect vision to varying degrees depending on which part of the eye is involved. Brain imaging often reveals structural abnormalities in both the cerebrum and cerebellum, such as underdevelopment (hypoplasia) of the cerebellar vermis. There is currently no cure for this condition. Treatment focuses on managing symptoms and supporting development. This may include physical therapy, occupational therapy, speech therapy, special education services, and vision support. Because so few cases have been described in the medical literature, much remains to be learned about the full range of symptoms and the best approaches to care.
Also known as:
Key symptoms:
Intellectual disabilityDelayed development of motor skillsPoor coordination and balance problemsEye coloboma (gap in part of the eye structure)Vision problemsAbnormal brain structure visible on MRIUnderdevelopment of the cerebellumSpeech and language delaysLow muscle tone (floppiness)Seizures in some casesDifficulty with fine motor tasksAbnormal eye movements
Clinical phenotype terms (31)— hover any for plain English
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for X-linked cerebral-cerebellar-coloboma syndrome.
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Specialists
View all specialists →No specialists are currently listed for X-linked cerebral-cerebellar-coloboma syndrome.
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 X-linked cerebral-cerebellar-coloboma syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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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.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific brain and eye abnormalities does my child have, and how might they change over time?,Has genetic testing identified the exact gene responsible, and should other family members be tested?,What therapies are most important to start right away?,Is my child at risk for seizures, and what should I watch for?,What kind of educational support will my child need?,Are there any clinical studies or research programs we could participate in?,How often should we schedule follow-up visits with each specialist?
Common questions about X-linked cerebral-cerebellar-coloboma syndrome
What is X-linked cerebral-cerebellar-coloboma syndrome?
X-linked cerebral-cerebellar-coloboma syndrome is an extremely rare genetic condition that primarily affects males. The name describes its three main features: problems with the brain (cerebral), the part of the brain that controls balance and coordination (cerebellar), and gaps or holes in parts of the eye (coloboma). Because it is X-linked, the faulty gene is located on the X chromosome, which means it mainly affects boys and men, while females may be carriers who show milder or no symptoms. Children with this syndrome typically show developmental delays, intellectual disability, and proble
How is X-linked cerebral-cerebellar-coloboma syndrome inherited?
X-linked cerebral-cerebellar-coloboma syndrome follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does X-linked cerebral-cerebellar-coloboma syndrome typically begin?
Typical onset of X-linked cerebral-cerebellar-coloboma syndrome is neonatal. Age of onset can vary across affected individuals.