Living with Deficiency of hyaluronoglucosaminidase
A rare form of mucopolysaccharidosis with joint pain and swelling, soft-tissue masses near joints, and short stature.
Understanding Deficiency of hyaluronoglucosaminidase
It is caused by a shortage of an enzyme called hyaluronidase 1. Features include knee or hip pain with swelling, joint inflammation, soft-tissue masses near the joints, and short stature. Facial differences can include a flat nasal bridge, split uvula, and cleft palate. GARD lists onset in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these as the most common:
- Short stature
- Differences in the hip socket
- Knee or hip pain with swelling
- Soft-tissue masses near joints
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 HYAL1 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 World Craniofacial Foundation 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 the HYAL1 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: deficiency of hyaluronidase; hyaluronidase deficiency; mps ix; mps9; mpsix; mucopolysaccharidosis type 9
Patient organizations
- 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 Deficiency of hyaluronoglucosaminidase.
Explore research for Deficiency of hyaluronoglucosaminidase
Explore actively recruiting Deficiency of hyaluronoglucosaminidase studies with HealthSpark.
Find actively recruiting studies for Deficiency of hyaluronoglucosaminidase 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 Deficiency of hyaluronoglucosaminidase 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 Deficiency of hyaluronoglucosaminidase
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 Deficiency of hyaluronoglucosaminidase 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.