Living with Cohen-Gibson syndrome
A rare genetic condition that causes overgrowth, a larger head, and sometimes learning differences and bone differences.
Understanding Cohen-Gibson syndrome
Children with COGIS have a large head, are taller than their peers, and have large hands and feet. Their bones may look older than their age (advanced bone age). Some have intellectual disability, which can be mild to severe, and some have a curved spine (scoliosis), low muscle tone, trouble walking or hernias.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Overgrowth and taller height
- Large head (macrocephaly)
- Large hands and feet
- Advanced bone age
- Intellectual disability and delayed speech
- Curved spine (scoliosis)
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 bone and joint specialists, brain and nervous system specialists, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in EED are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- 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 Human Growth 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
Cohen-Gibson syndrome is caused by changes in the EED gene. It is autosomal dominant, so one changed copy of the gene is enough to cause it.
Also known as: cogis
Patient organizations
- Human Growth FoundationCohen-Gibson syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Cohen-Gibson syndrome.
Explore research for Cohen-Gibson syndrome
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- Eligibility is confirmed by the study team
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