Living with X-linked cerebral-cerebellar-coloboma syndrome syndrome
A rare genetic condition from birth with brain differences, eye coloboma, low muscle tone, seizures, and developmental delay.
Understanding X-linked cerebral-cerebellar-coloboma syndrome syndrome
GARD describes an underdeveloped part of the cerebellum, enlarged brain fluid spaces, a missing brain connection (corpus callosum), and eye coloboma (a gap in an eye structure). Babies have fluid buildup in the brain, low muscle tone, an abnormal breathing pattern, vision problems, and severe developmental delay. Seizures can occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Extra fluid in the brain (hydrocephalus)
- Eye coloboma
- Low muscle tone in infancy (floppy infant)
- Pauses in breathing in infancy
- Developmental delay and intellectual disability
- Seizures and feeding difficulties
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes (variants) cause this condition and it follows X-linked inheritance. It doesn't name a gene.
Also known as: cerebral-cerebellar-coloboma syndrome, x-linked; cerebral-cerebellar-coloboma syndrome, x-linked, x-linked recessive; x-linked cerebral-cerebellar-coloboma syndrome; x-linked cerebral, cerebellar, coloboma syndrome; x-linked intellectual disability kroes type; x-linked intellectual disability, kroes type
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked cerebral-cerebellar-coloboma syndrome syndrome.
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