Orpha Number: 583
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 | ||
Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
Chronic otitis media |
Chronic infections of the middle ear
|
0000389 |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Disproportionate short-trunk |
Disproportionate short-trunked dwarfism
Disproportionate short-trunked short stature
Short-trunked dwarfism
[ more ]
|
0003521 |
Epiphyseal dysplasia |
Abnormal development of the ends of long bones in arms and legs
|
0002656 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
Mucopolysacchariduria | 0008155 | |
Opacification of the corneal stroma | 0007759 | |
Recurrent upper respiratory tract infections |
Recurrent colds
|
0002788 |
Sinusitis |
Sinus inflammation
|
0000246 |
Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ]
|
0000179 |
Thick nasal alae | 0009928 | |
30%-79% of people have these symptoms | ||
Broad ribs |
Wide ribs
|
0000885 |
Genu valgum |
Knock knees
|
0002857 |
Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
Hernia | 0100790 | |
Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
Ovoid vertebral bodies | 0003300 | |
Short neck |
Decreased length of neck
|
0000470 |
Splenomegaly |
Increased spleen size
|
0001744 |
5%-29% of people have these symptoms | ||
Abnormal heart valve morphology | 0001654 | |
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ]
|
0100543 |
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ]
|
0000158 |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ]
|
0000505 |
Percent of people who have these symptoms is not available through HPO | ||
Anterior wedging of L1 | 0008432 | |
Anterior wedging of L2 | 0011941 | |
0000007 | ||
Avascular necrosis |
Death of bone due to decreased blood supply
|
0010885 |
Disease of the heart muscle
|
0001638 | |
Cervical myelopathy | 0002318 | |
Constrictive median neuropathy | 0012185 | |
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 ]
|
0005280 |
Dermatan sulfate excretion in urine | 0008301 | |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ]
|
0000268 |
Dysostosis multiplex | 0000943 | |
Flared iliac wings | 0002869 | |
0000501 | ||
Hepatomegaly |
Enlarged liver
|
0002240 |
Hip dysplasia | 0001385 | |
Hirsutism |
Excessive hairiness
|
0001007 |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hypoplasia of the odontoid process | 0003311 | |
Hypoplastic acetabulae | 0003274 | |
Hypoplastic iliac wing | 0002866 | |
Inguinal hernia | 0000023 | |
Lumbar hyperlordosis |
Excessive inward curvature of lower spine
|
0002938 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
Metaphyseal irregularity |
Irregular wide portion of a long bone
|
0003025 |
Metaphyseal widening |
Broad wide portion of long bone
|
0003016 |
Prominent sternum | 0000884 | |
Split hand |
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand
[ more ]
|
0001171 |
Umbilical hernia | 0001537 |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a 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.
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.
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.