Living with Mucopolysaccharidosis type 6
An inherited condition (Maroteaux-Lamy syndrome) that affects the skeleton, heart, and breathing, with signs starting in early childhood.
Understanding Mucopolysaccharidosis type 6
People generally show no features at birth and begin to show signs in early childhood. Features include a large head, coarse facial features, a large tongue, short stature, stiff joints, and multiple skeletal differences. Carpal tunnel syndrome is common, and narrowing of the spinal canal in the neck can press on the spinal cord. The heart valves, airway, liver, and spleen can also be affected.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature with a short trunk
- Joint stiffness
- Coarse facial features
- Cloudy corneas
- Hearing impairment and ear infections
- Frequent colds and breathing infections
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in ARSB 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 and World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America, 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 ARSB gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: arsb - arylsulfatase b deficiency; arsb deficiency; arylsulfatase b deficiency; asb deficiency; deficiency of n-acetylgalactosamine-4-sulfatase; maroteaux - lamy syndrome
Patient organizations
- Little People of AmericaMucopolysaccharidosis type 6 · United States
- National MPS SocietyMucopolysaccharidosis type 6 · 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 type 6.
Explore research for Mucopolysaccharidosis type 6
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