Living with Mucopolysaccharidosis, MPS-IV-A
An inherited condition (Morquio syndrome type A) that mainly affects the skeleton, causing short stature and bone and joint differences.
Understanding Mucopolysaccharidosis, MPS-IV-A
Severity, age of onset, and symptoms vary widely, from an early, quickly progressing form to a later, slowly progressing form. The more severe form is usually diagnosed between ages 1 and 3, and the milder form may not show until late childhood or adolescence. Features include short stature, knock knees, pigeon chest, and spine, hip, and wrist differences. Other organs may be involved, including breathing problems, heart valve disease, hearing loss, clouded corneas, dental differences, and pressure on the spinal cord.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature with a short trunk
- Knock knees
- Pigeon chest (pectus carinatum)
- Curved spine (scoliosis, kyphosis)
- Recurrent pneumonia
- Waddling walk
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 GALNS 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 GALNS gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: deficiency of chondroitinase; deficiency of chondroitinsulfatase; deficiency of galactose-6-sulfate sulfatase; deficiency of n-acetylgalactosamine-6-sulfatase; galactosamine-6-sulfatase deficiency; galactose-6-sulfatase deficiency
Patient organizations
- National MPS SocietyMucopolysaccharidosis, MPS-IV-A · 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-A.
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