Living with MOGS-congenital disorder of glycosylation
A rare inherited condition with low muscle tone, seizures, feeding problems, and distinctive facial features, starting in the newborn period.
Understanding MOGS-congenital disorder of glycosylation
Features include low muscle tone, certain facial features, underdeveloped genitals, seizures, feeding difficulties, and slow breathing. People may also have very low levels of antibodies (hypogammaglobulinemia) with swelling throughout the body. They may be more resistant to certain viral infections. Signs begin in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone in infancy (floppy infant)
- Seizures
- Distinctive facial features, such as a wide nose and long eyelashes
- Receding chin (retrognathia)
- Underdeveloped external genitals
- Extra body hair (hirsutism)
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, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in MOGS 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, Epilepsy Foundation and 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); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: CDG CARE, Epilepsy Foundation, 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 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
This condition is caused by changes in the MOGS gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: carbohydrate deficient glycoprotein syndrome type iib; cdg 2b; cdg iib; cdg syndrome type iib; cdg-iib; cdg2b
Patient organizations
- CDG CAREMOGS-congenital disorder of glycosylation · United States
- Epilepsy FoundationEpilepsy · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with MOGS-congenital disorder of glycosylation.
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