Living with Mucopolysaccharidosis type 7
An inherited condition (Sly syndrome) that affects most tissues and organs, with severity that varies widely.
Understanding Mucopolysaccharidosis type 7
Severity varies widely. The most severe cases involve hydrops fetalis, a buildup of fluid in the body before birth. Others typically show signs in early childhood. Features include a large head, coarse facial features, a large tongue, an enlarged liver and spleen, heart valve differences, cloudy corneas, hearing loss, and short stature. Some people have developmental delay and intellectual disability, while others have normal intelligence.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Coarse facial features
- Cloudy corneas
- Enlarged spleen
- Hernias
- Joint stiffness and scoliosis
- Intellectual disability in some people
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 GUSB 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 National MPS Society 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 GUSB gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: beta-glucuronidase deficiency; deficiency of beta-glucuronidase; gusb deficiency; mps vii; mps vii - mucopolysaccharidosis vii; mps vii - sly syndrome
Patient organizations
- National MPS SocietyMucopolysaccharidosis type 7 · 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 7.
Explore research for Mucopolysaccharidosis type 7
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