Living with Mucopolysaccharidosis-plus syndrome
A rare genetic condition with early breathing problems, heart defects, bone and organ differences, and developmental delay.
Understanding Mucopolysaccharidosis-plus syndrome
It is marked by early breathing difficulties and frequent respiratory infections, heart defects present from birth, multiple bone differences (dysostosis multiplex), an enlarged liver and spleen, kidney involvement, and blood abnormalities. Facial features are coarse, and there is global developmental delay. Lab tests show extra sugar chains in the urine but no missing lysosomal enzyme. It begins in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Breathing difficulties and respiratory infections
- Heart defects and heart muscle thickening
- Enlarged liver and spleen
- Coarse facial features and a large tongue
- Delays in reaching developmental milestones
- Stiff joints (contractures)
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, genetic specialists and lung and breathing specialists.
- 3Consider genetic testing
Changes in VPS33A are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Lung and breathing specialists (pulmonologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 VPS33A gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: mpsps; mucopolysaccharidosis-like plus disease; mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Mucopolysaccharidosis-plus syndrome.
Explore research for Mucopolysaccharidosis-plus syndrome
Explore actively recruiting Mucopolysaccharidosis-plus syndrome studies with HealthSpark.
Find actively recruiting studies for Mucopolysaccharidosis-plus syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Mucopolysaccharidosis-plus syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Mucopolysaccharidosis-plus syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Mucopolysaccharidosis-plus syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.