Living with XYLT1-congenital disorder of glycosylation
A rare inherited condition with moderate intellectual disability, short stature, mild bone changes and distinctive facial features.
Understanding XYLT1-congenital disorder of glycosylation
People have moderate intellectual disability, short stature and mild bone changes. Facial features can include a coarse face, joined eyebrows and deep lines from the nose to the mouth. Bone changes can include broad ribs, stocky long bones and broad thumbs. Onset is in the newborn and infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Moderate intellectual disability
- Growth delay
- Small head size (microcephaly)
- Broad ribs and broad thumbs
- Very flexible joints and joint dislocation
- Coarse, round face with joined eyebrows (synophrys)
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 XYLT1 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
Changes in the XYLT1 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: xylosyltransferase 1 congenital disorder of glycosylation; xylt1-cdg; xylt1-cdg - xylosyltransferase 1 congenital disorder of glycosylation; xylt18-cdg
Patient organizations
- CDG CAREXYLT1-congenital disorder of glycosylation · United States
You are more than your diagnosis
Perspectives from people navigating life with XYLT1-congenital disorder of glycosylation.
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