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 | Learn More: HPO ID |
---|---|---|
80%-99% of people have these symptoms | ||
Coarse facial features |
Coarse facial appearance
|
0000280 |
Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ]
|
0001376 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
Decreased body height
Small stature
[ more ]
|
0004322 | |
30%-79% of people have these symptoms | ||
Chronic diarrhea | 0002028 | |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
0005781 | ||
Decreased nerve conduction velocity | 0000762 | |
Loss of developmental milestones
Mental deterioration in childhood
[ more ]
|
0002376 | |
Dysostosis multiplex | 0000943 | |
Enlarged tonsils | 0030812 | |
Flexion contracture of digit | 0030044 | |
Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ]
|
0000293 |
Gingival overgrowth |
Gum enlargement
|
0000212 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Hoarse voice |
Hoarseness
Husky voice
[ more ]
|
0001609 |
Inguinal hernia | 0000023 | |
Irregularity of vertebral bodies | 0004582 | |
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ]
|
0000158 |
Peripheral visual field loss |
Loss of peripheral vision
|
0007994 |
Progressive neurologic deterioration |
Worsening neurological symptoms
|
0002344 |
Recurrent ear infections |
Frequent ear infections
|
0410018 |
Recurrent upper respiratory tract infections |
Recurrent colds
|
0002788 |
Retinal degeneration |
Retina degeneration
|
0000546 |
Retinopathy |
Noninflammatory retina disease
|
0000488 |
Sensorineural hearing impairment | 0000407 | |
Short attention span |
Poor attention span
Problem paying attention
[ more ]
|
0000736 |
Sleep apnea |
Pauses in breathing while sleeping
|
0010535 |
Sleep-wake cycle disturbance | 0006979 | |
Splenomegaly |
Increased spleen size
|
0001744 |
Thick vermilion border |
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ]
|
0012471 |
Umbilical hernia | 0001537 | |
5%-29% of people have these symptoms | ||
Abnormal aortic morphology | 0001679 | |
Abnormal epiphyseal ossification | 0010656 | |
Abnormal foveal morphology | 0000493 | |
Abnormal full-field electroretinogram | 0030466 | |
Abnormal mitral valve morphology | 0001633 | |
Abnormal nasal mucus secretion | 0031416 | |
Abnormal pulmonary valve morphology | 0001641 | |
Abnormal tricuspid valve morphology | 0001702 | |
Abnormality of retinal pigmentation | 0007703 | |
Disease of the heart muscle
|
0001638 | |
Communicating |
0001334 | |
Constrictive median neuropathy | 0012185 | |
Corneal opacity | 0007957 | |
Global |
0001263 | |
Hip dysplasia | 0001385 | |
Hip osteoarthritis | 0008843 | |
Hyperactivity |
More active than typical
|
0000752 |
Muscle stiffness | 0003552 | |
Nyctalopia |
Night blindness
Night-blindness
Poor night vision
[ more ]
|
0000662 |
Optic atrophy | 0000648 | |
Otosclerosis | 0000362 | |
Papilledema | 0001085 | |
Prominent supraorbital ridges |
Prominent brow
|
0000336 |
Spinal cord compression |
Pressure on spinal cord
|
0002176 |
Temporomandibular joint ankylosis |
Freezing of jaw joint
|
0012478 |
Upper airway obstruction | 0002781 | |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ]
|
0000431 |
Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ]
|
0000445 |
1%-4% of people have these symptoms | ||
Abnormal temper tantrums | 0025160 | |
Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ]
|
0000718 |
Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ]
|
0011675 |
0000822 | ||
Impulsivity |
Impulsive
|
0100710 |
Large central visual field defect |
Large central loss of field of vision
|
0001129 |
Oppositional defiant disorder | 0010865 | |
Peripheral arterial stenosis | 0004950 | |
0001250 | ||
Stereotypy |
Repetitive movements
Repetitive or self-injurious behavior
[ more ]
|
0000733 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal heart valve morphology | 0001654 | |
Asthma | 0002099 | |
Cervical cord compression | 0002341 | |
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ]
|
0001635 |
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
|
0000684 |
Dermatan sulfate excretion in urine | 0008301 | |
Diarrhea |
Watery stool
|
0002014 |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ]
|
0000268 |
Flexion contracture |
Flexed joint that cannot be straightened
|
0001371 |
Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
Heparan sulfate excretion in urine | 0002159 | |
Hydrocephalus |
Too much cerebrospinal fluid in the brain
|
0000238 |
Hypertrichosis | 0000998 | |
IQ less than 20
|
0002187 | |
Intestinal pseudo-obstruction | 0004389 | |
Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
Mild short stature | 0003502 | |
Neurodegeneration |
Ongoing loss of nerve cells
|
0002180 |
Obstructive sleep apnea | 0002870 | |
Pes cavus |
High-arched foot
|
0001761 |
Drooping upper eyelid
|
0000508 | |
Recurrent otitis media |
Recurrent middle ear infection
|
0000403 |
Scaphocephaly | 0030799 | |
Severe short stature |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ]
|
0003510 |
Short neck |
Decreased length of neck
|
0000470 |
Split hand |
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand
[ more ]
|
0001171 |
Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ]
|
0000179 |
Tracheobronchomalacia | 0002786 | |
Urinary glycosaminoglycan excretion | 0003541 | |
Widely spaced teeth |
Wide-spaced teeth
Widely-spaced teeth
[ more ]
|
0000687 |
0001419 |
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.
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.
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.
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