Living with Mucopolysaccharidosis, MPS-I-S
The mildest form of MPS I, an inherited condition that can cause skeletal differences, cloudy corneas, and stiff joints.
Understanding Mucopolysaccharidosis, MPS-I-S
It is marked by skeletal differences and a delay in motor development. Signs can appear from childhood to adulthood. Other features may include coarse facial features, cloudy corneas, glaucoma, an enlarged liver and spleen, and limited joint movement.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Skeletal differences
- Limited joint movement
- Cloudy corneas (corneal opacity)
- Glaucoma
- Enlarged liver and spleen
- Coarse facial features
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 bone and joint specialists, brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in IDUA 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
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial 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 World Craniofacial Foundation 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 IDUA gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: l-iduronidase deficiency, scheie type; mps 1-s - mucopolysaccharidosis type i-s; mps i s; mps v; mps1s; mpsis
Patient organizations
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Mucopolysaccharidosis, MPS-I-S.
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