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|
Psychiatric disturbances[ more ]
|Coarse facial features||
Coarse facial appearance
|Depressed nasal bridge||
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root[ more ]
|Depressed nasal ridge||
Recessed nasal ridge[ more ]
Long, narrow head
Tall and narrow skull[ more ]
Hearing defect[ more ]
IQ less than 20
Increased size of skull
Large head circumference[ more ]
Short stature, severe[ more ]
Decreased length of neck
Increased spleen size
|Thick lower lip vermilion||
Increased volume of lower lip
Plump lower lip
Prominent lower lip[ more ]
|Widely spaced teeth||
Widely-spaced teeth[ more ]
|30%-79% of people have these symptoms|
|Abnormality of retinal pigmentation||0007703|
|Abnormality of the cardiovascular system||
|Abnormality of the hip bone||
Abnormality of the hips
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent lower jaw[ more ]
|Recurrent otitis media||
Recurrent middle ear infection
|5%-29% of people have these symptoms|
Stiff joints[ more ]
Round back[ more ]
Abnormally large tongue
Increased size of tongue
Large tongue[ more ]
Drooping upper eyelid
Narrowing of windpipe
|Percent of people who have these symptoms is not available through HPO|
|Abnormal heart valve morphology||0001654|
|Cervical cord compression||0002341|
|Congestive heart failure||
Heart failure[ more ]
|Delayed eruption of teeth||
Delayed teeth eruption
Delayed tooth eruption
Late eruption of teeth
Late tooth eruption[ more ]
|Dermatan sulfate excretion in urine||0008301|
|Heparan sulfate excretion in urine||0002159|
Husky voice[ more ]
Too much cerebrospinal fluid in the brain
|Mild short stature||0003502|
|Obstructive sleep apnea||0002870|
Claw hand deformities
Split-hand[ more ]
|Urinary glycosaminoglycan excretion||0003541|
The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. Click here to link directly to a list of labs conducting carrier
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Learn more orphan products.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include mucopolysaccharidosis type 1, 6, 7; sialidosis type 2; mucolipidosis type 2 and 3; and multiple sulfatase deficiency (see these terms).
Visit the Orphanet disease page for more information.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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
Insights From Ten Years of the Hunter Outcome Survey
July 6, 2017
2016 Million Dollar Bike Ride Pilot Grant Program
August 15, 2016
Gordon Research Conference and Gordon Research Seminar on Lysosomes and Endocytosis
Sunday, June 15, 2014 -
Friday, June 20, 2014
Location: Proctor Academy, Andover, NH
Description: The main goal of the Lysosomes and Endocytosis GRC is to foster the dissemination of current research results and the establishment of new research areas and new collaborations in the area of the cell biology of endocytosis, lysosomes, endosomes and related organelles. We hope that many of these new directions and collaborations will be directed toward the etiology, diagnosis and treatment of rare genetic diseases such as lysosomal storage disorders, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Niemann Pick disease and tuberous sclerosis, among others.
Contact: Alexandra Ainsztein, Ph.D.(301) 594-0828, Alexandra.Ainsztein@nih.gov
Co-funding Institute(s): National Institute of General Medical Sciences, Office of Rare Diseases Research
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
I had two brothers with the severe form of Hunter syndrome and both have passed away. I was never tested to see if I am a carrier, and now my daughter would like to know if she is a carrier. Is there a definitive test to determine if one is a carrier? Who do we contact to be tested? See answer