Living with Cohen syndrome
An inherited condition affecting many body parts, with developmental delay, small head size, weak muscles and eye problems.
Understanding Cohen syndrome
People with Cohen syndrome often have a small head (microcephaly) and weak muscle tone. Vision problems such as worsening nearsightedness and retinal changes are common, along with very flexible joints and distinctive facial features. Symptoms can start before birth or in infancy and vary widely.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Developmental delay and intellectual disability
- Small head size (microcephaly)
- Weak muscle tone (hypotonia)
- Nearsightedness (myopia) that gets worse over time
- Eye tissue breakdown (retinal dystrophy)
- Very flexible joints (joint hypermobility)
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 allergy and immune system specialists, brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in VPS13B are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- 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 Simons Searchlight and other patient organizations
- 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
Cohen syndrome is caused by changes in the VPS13B gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: coh1; cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness; pepper syndrome
Patient organizations
- Simons SearchlightCohen syndrome · United States
- Cohen Syndrome AssociationCohen syndrome · United States
- National Neutropenia NetworkCohen syndrome · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Cohen syndrome.
Explore research for Cohen syndrome
Explore actively recruiting Cohen syndrome studies with HealthSpark.
Find actively recruiting studies for Cohen syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- 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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