This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Abnormality of epiphysis morphology||
Abnormal shape of end part of bone
|Abnormality of the metaphysis||
Abnormality of the wide portion of a long bone
|Abnormality of the ribs||
|Delayed skeletal maturation||
Delayed bone maturation
Delayed skeletal development
|Reduced bone mineral density||0004349|
Decreased length of neck
|30%-79% of people have these symptoms|
|Abnormality of the heart valves||0001654|
Nasal tip, upturned
Upturned nasal tip
|Coarse facial features||
Coarse facial appearance
Gray colored tooth enamel
Recurrent joint dislocations
|Spinal canal stenosis||
Narrow spinal canal
|5%-29% of people have these symptoms|
Abnormality of cognition
Mucopolysaccharidosis type IV is
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
2017 Million Dollar Bike Ride Pilot Grant Program
August 30, 2017
2016 Million Dollar Bike Ride Pilot Grant Program
August 15, 2016
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