Living with COFS syndrome
A condition that mainly affects the brain, eyes, and spinal cord and is usually found at birth, with low muscle tone and distinct facial features.
Understanding COFS syndrome
People have mild to severe intellectual disability, very low muscle tone, weak reflexes, vision problems, and involuntary eye movements. Children have distinct facial features, including low-set ears, small eyes, a small head, and a small jaw. Skull, limb, heart, and kidney differences can occur. It is often diagnosed at birth. GARD says the cause is often unknown.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head size (microcephaly)
- Very low muscle tone (hypotonia)
- Cataracts and small eyes
- Calcium deposits in the brain
- Joint contractures present from birth
- Small or underdeveloped cerebellum
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, cancer specialists, ear, nose, and throat specialists and eye disease 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); Cancer specialists (oncologists); Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists)
- 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 Children's Skin Disease Foundation
- 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 the cause is often unknown. Some children have changes in the ERCC1, ERCC2, ERCC5, or ERCC6 gene. It is autosomal recessive.
Also known as: camak - cerebro-oculo-facio-skeletal syndrome; camfak - cerebro-oculo-facio-skeletal syndrome; cerebro oculo facio skeletal syndrome; cerebro-oculo-facio-skeletal syndrome; cerebrooculofacioskeletal syndrome; cofs
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- 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 COFS syndrome.
Explore research for COFS syndrome
Explore actively recruiting COFS syndrome studies with HealthSpark.
Find actively recruiting studies for COFS syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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