Living with Mucopolysaccharidosis, MPS-I-H/S
An in-between form of MPS I, an inherited condition causing bone differences, delayed motor skills, and cloudy corneas.
Understanding Mucopolysaccharidosis, MPS-I-H/S
It sits between the two ends of MPS 1, Hurler syndrome and Scheie syndrome. It is marked by bone and skeletal differences and a delay in motor development. Signs begin in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Skeletal differences and short stature
- Limited joint movement
- Coarse facial features
- Cloudy corneas (corneal opacity)
- Enlarged liver and spleen
- Hearing loss from inner ear changes
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
Little People of America, Children's Cardiomyopathy Foundation and 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: Little People of America, Children's Cardiomyopathy Foundation, 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 Little People of America 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: hurler-scheie disease mps type 1h/s; hurler-scheie syndrome; l-iduronidase deficiency, hurler-scheie type; mps i h-s; mps1h/s; mpsih/s
Patient organizations
- Little People of AmericaMucopolysaccharidosis, MPS-I-H/S · United States
- National MPS SocietyMucopolysaccharidosis, MPS-I-H/S · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
- 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-H/S.
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