Living with Morquio syndrome
An inherited condition (MPS IV) that mainly affects the skeleton, causing short stature, joint and spine differences, and cloudy corneas.
Understanding Morquio syndrome
The first signs usually appear in early childhood, and the rate of change varies. People develop short stature, knock knees, and differences in the ribs, chest, spine, hips, and wrists. A peg-like bone in the neck (odontoid process) is underdeveloped, which can misalign the neck bones and press on the spinal cord. The cornea often becomes cloudy, and some have ear infections, hearing loss, and a narrow airway.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature and knock knees
- Rib, chest, and spine differences
- Very flexible joints
- Cloudy corneas (corneal opacity)
- Hearing impairment
- Dental problems, such as thin enamel and cavities
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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
Changes in genes (also called variants) cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: atypical chondrodystrophy; brailsford-morquio syndrome; chondro-osteodystrophy; chondrodystrophia tarda; deficiency of chondroitinsulphatase; eccentro-osteochondrodysplasia
Patient organizations
- Little People of AmericaMorquio syndrome · United States
- National MPS SocietyMorquio syndrome · 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 Morquio syndrome.
Explore research for Morquio syndrome
Explore actively recruiting Morquio syndrome studies with HealthSpark.
Find actively recruiting studies for Morquio 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 Morquio 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 Morquio 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 Morquio 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.