Living with Congenital disorder of glycosylation type Ir
A rare genetic condition (DDOST-CDG) with slow growth, developmental delay, low muscle tone, eye misalignment and liver problems.
Understanding Congenital disorder of glycosylation type Ir
It is a form of congenital disorders of N-linked glycosylation. Features include slow growth and weight gain, developmental delay, low muscle tone, eyes that do not line up and liver problems. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slow weight gain (failure to thrive)
- Developmental delay
- Low muscle tone (hypotonia)
- Seizures
- Eyes turning inward (esotropia)
- Short stature
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, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in DDOST 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); Digestive system specialists (gastroenterologists); 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
It is caused by changes in the DDOST gene (at 1p36.1). It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: carbohydrate deficient glycoprotein syndrome type ir; cdg syndrome type ir; cdg-ir; cdg1r; congenital disorder of glycosylation type 1r; ddost-cdg
Patient organizations
- CDG CARECongenital disorder of glycosylation type Ir · United States
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Perspectives from people navigating life with Congenital disorder of glycosylation type Ir.
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