Living with COG5-congenital disorder of glycosylation
An inherited condition that causes nervous system problems, delayed development, and a small head.
Understanding COG5-congenital disorder of glycosylation
Signs usually begin in infancy, with weak muscle tone and delayed development. Other features include moderate to severe intellectual disability, poor coordination, and trouble walking. Some people never learn to speak. Short stature, a small head, and distinct facial features can occur. Less often there is hearing loss, vision problems, or nerve damage affecting the bladder. GARD lists onset in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weak muscle tone in infancy
- Delayed development and motor skills
- Severe intellectual disability
- Delayed speech
- Small head size (microcephaly)
- Low-set, back-turned ears and prominent nose
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 COG5 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 COG5 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: carbohydrate deficient glycoprotein syndrome type iii; cdg iii; cdg syndrome type iii; cdg-iii; cdg2i; cdg2i - carbohydrate deficient glycoprotein syndrome type iii
Patient organizations
- CDG CARECOG5-congenital disorder of glycosylation · United States
You are more than your diagnosis
Perspectives from people navigating life with COG5-congenital disorder of glycosylation.
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