Living with COG6-congenital disorder of glycosylation
An inherited condition affecting many body systems from birth or early infancy, with poor growth, digestive and liver problems, and developmental delay.
Understanding COG6-congenital disorder of glycosylation
It is marked by poor growth, digestive and liver differences, delayed development, low muscle tone, repeated infections, blood differences, and a tendency to bleed. Skin features include sweating differences and thickened skin. Facial differences and heart wall defects are more variable. GARD lists onset in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor growth and slow weight gain
- Chronic diarrhea
- Enlarged liver
- Low muscle tone
- Global developmental delay
- Small head size and decreased sweating
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.
- 3Consider genetic testing
Changes in COG6 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
CDG CARE may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: CDG CARE
- 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 CDG CARE
- 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 the COG6 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: cdg iil; cdg syndrome type iil; cdg-iil; cdg2l; cog6-cdg; cog6-cgd
Patient organizations
- CDG CARECOG6-congenital disorder of glycosylation · United States
You are more than your diagnosis
Perspectives from people navigating life with COG6-congenital disorder of glycosylation.
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