What you may notice
Symptoms can overlap with other conditions and vary between people.
- Lens displacement
- Tall stature in classic disease
- Bone fragility
- Learning difficulties in some people
Understanding care
Clinical care may include metabolic assessment and monitoring of clot, eye, skeletal and nutritional risks. A qualified clinician decides which investigations and options fit the individual situation.
When to seek help
Sudden chest pain, breathlessness or stroke-like symptoms requires emergency services. New one-sided leg swelling or a new serious eye complaint needs urgent clinical assessment.
For severe breathing difficulty, collapse, suspected stroke, or another emergency, call local emergency services immediately. In India, call 112.
Read the medical sources
These sources support the educational article and offer more detail.
Prepared from the linked sources. This summary has not had an independent clinician review. A qualified clinician can assess symptoms and explain which information applies to you.
