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 | ||
Abnormal vitreous humor morphology | 0004327 | |
Cloudy lens
Clouding of the lens of the eye
[ more ]
|
0000518 | |
Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ]
|
0000327 |
Long philtrum | 0000343 | |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
Retinal detachment |
Detached retina
|
0000541 |
Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
Skeletal dysplasia | 0002652 | |
30%-79% of people have these symptoms | ||
Abnormality of vertebral epiphysis morphology |
Abnormal shape of the end part of the vertebra bone
|
0100734 |
Arthralgia |
Joint pain
|
0002829 |
Cleft roof of mouth
|
0000175 | |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Mitral valve prolapse | 0001634 | |
Osteoarthritis |
Degenerative joint disease
|
0002758 |
Platyspondyly |
Flattened vertebrae
|
0000926 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
Sensorineural hearing impairment | 0000407 | |
5%-29% of people have these symptoms | ||
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Visual loss |
Loss of vision
Vision loss
[ more ]
|
0000572 |
Percent of people who have these symptoms is not available through HPO | ||
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
Arachnodactyly |
Long slender fingers
Spider fingers
[ more ]
|
0001166 |
Arthropathy |
Disease of the joints
|
0003040 |
0000006 | ||
Beaking of vertebral bodies | 0004568 | |
Blindness | 0000618 | |
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 |
Disproportionate tall stature | 0001519 | |
0000501 | ||
Irregular femoral epiphysis |
Irregular thighbone end part
|
0006361 |
Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
Pectus excavatum |
Funnel chest
|
0000767 |
Pierre-Robin sequence | 0000201 | |
Abnormal curving of the spine
|
0002650 | |
Spondyloepiphyseal dysplasia | 0002655 |
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.
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.