Living with STT3B-congenital disorder of glycosylation
An inherited condition with slow growth before birth, delayed development, seizures, and breathing and vision problems.
Understanding STT3B-congenital disorder of glycosylation
Babies may grow slowly before birth and have a small head. Children have delayed development, intellectual disability, low muscle tone, seizures, and slow weight gain. Some have breathing problems, optic nerve damage, or low platelets. Genital differences have also been reported. Signs may begin in the newborn or infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed development
- Intellectual disability
- Low muscle tone
- Seizures
- Breathing difficulties
- Optic nerve damage (optic atrophy)
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, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in STT3B 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 and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: CDG CARE, Epilepsy 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 CDG CARE 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
Changes in the STT3B gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: carbohydrate deficient glycoprotein syndrome type ix; cdg ix; cdg syndrome type ix; cdg-ix; cdg1x; congenital disorder of glycosylation type 1x
Patient organizations
- CDG CARESTT3B-congenital disorder of glycosylation · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with STT3B-congenital disorder of glycosylation.
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