Orpha Number: 1154
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 | ||
| Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ]
|
0000490 |
| Dimple chin |
Chin butt
Chin dent
Chin dimple
Chin skin dimple
Indentation of chin
[ more ]
|
0010751 |
| Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
| Ophthalmoplegia |
Eye muscle paralysis
|
0000602 |
| Pectus excavatum |
Funnel chest
|
0000767 |
|
Drooping upper eyelid
|
0000508 | |
| 30%-79% of people have these symptoms | ||
| Abnormal electroretinogram | 0000512 | |
| Absent palmar crease |
Absent palm lines
|
0010489 |
| Arachnodactyly |
Long slender fingers
Spider fingers
[ more ]
|
0001166 |
| Bilateral talipes equinovarus |
Club foot on both sides
|
0001776 |
| 0005879 | ||
| Deviation of finger |
Atypical position of finger
Finger pointing in a different direction than usual
[ more ]
|
0004097 |
| Inguinal hernia | 0000023 | |
| Macrotia |
Large ears
|
0000400 |
| Optic atrophy | 0000648 | |
| Triangular face |
Face with broad temples and narrow chin
Triangular facial shape
[ more ]
|
0000325 |
| Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ]
|
0000505 |
| 5%-29% of people have these symptoms | ||
| Hypermetropia |
Farsightedness
Long-sightedness
[ more ]
|
0000540 |
| 0002650 | ||
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of retinal pigmentation | 0007703 | |
| Abnormality of the rib cage | 0001547 | |
| Absent phalangeal crease | 0006109 | |
| Arthrogryposis multiplex congenita | 0002804 | |
| Astigmatism |
Abnormal curving of the cornea or lens of the eye
|
0000483 |
| 0000006 | ||
| Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
| Clinodactyly |
Permanent curving of the finger
|
0030084 |
| Decreased facial expression | 0004673 | |
| Decreased muscle mass | 0003199 | |
| Decreased palmar creases |
Shallow palm line
|
0006184 |
| Distal arthrogryposis | 0005684 | |
| Duane anomaly | 0009921 | |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Firm muscles | 0003725 | |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Keratoconus |
Bulging cornea
|
0000563 |
| Keratoglobus | 0001119 | |
| Limited wrist extension | 0006251 | |
| Protruding ear |
Prominent ear
Prominent ears
[ more ]
|
0000411 |
| Restrictive ventilatory defect |
Stiff lung or chest wall causing decreased lung volume
|
0002091 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
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.
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.
