Living with Mucopolysaccharidosis, MPS-IV-B
A rare genetic condition that affects how the body breaks down substances in cells, causing abnormal bone growth and short stature.
Understanding Mucopolysaccharidosis, MPS-IV-B
An enzyme called beta galactosidase does not work well, which can cause abnormal bone growth (skeletal dysplasia) and shorter height than expected for age. GARD lists other features that include coarse facial features and cloudy corneas.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Abnormal bone growth (skeletal dysplasia)
- Short stature
- Coarse facial features
- Cloudy corneas (corneal opacity)
- Hunched back (kyphosis)
- Knock knees
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 GLB1 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); 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 GLB1 gene, so the enzyme beta galactosidase does not work well. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: beta-d-galactosidase deficiency; morquio b syndrome; morquio disease type b; morquio syndrome b; morquio-like syndrome; mps 4b
Patient organizations
- National MPS SocietyMucopolysaccharidosis, MPS-IV-B · 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-IV-B.
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