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 | ||
| Atresia of the external auditory canal |
Absent ear canal
|
0000413 |
| Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
| Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ]
|
0000268 |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Dural ectasia | 0100775 | |
| High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ]
|
0002705 |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| Meningocele | 0002435 | |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Narrow face |
Decreased breadth of face
Decreased width of face
[ more ]
|
0000275 |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
|
Drooping upper eyelid
|
0000508 | |
| Wormian bones |
Extra bones within cranial sutures
|
0002645 |
| 30%-79% of people have these symptoms | ||
| Abnormal form of the vertebral bodies | 0003312 | |
| Abnormality of the middle ear ossicles | 0004452 | |
| Craniofacial hyperostosis |
Excessive bone growth of the skull and face
|
0004493 |
| Dental crowding |
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ]
|
0000678 |
| Inguinal hernia | 0000023 | |
| Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
| Low posterior hairline |
Low hairline at back of neck
|
0002162 |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Prominent metopic ridge | 0005487 | |
| 0002650 | ||
| Short neck |
Decreased length of neck
|
0000470 |
| Smooth philtrum | 0000319 | |
| Umbilical hernia | 0001537 | |
| 5%-29% of people have these symptoms | ||
| Arnold-Chiari malformation | 0002308 | |
| Bicuspid aortic valve |
Aortic valve has two leaflets rather than three
|
0001647 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Global |
0001263 | |
| Hyperlordosis |
Prominent swayback
|
0003307 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Iris coloboma |
Cat eye
|
0000612 |
| Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
| Sensorineural hearing impairment | 0000407 | |
| Syringomyelia |
Fluid-filled cyst in spinal cord
|
0003396 |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the rib cage | 0001547 | |
| Abnormality of the skin | 0000951 | |
| Arachnoid cyst |
Fluid-filled sac located in membrane surrounding brain or spinal cord
|
0100702 |
| Arnold-Chiari type I malformation | 0007099 | |
| 0000006 | ||
| Biconcave vertebral bodies | 0004586 | |
| Coarse hair |
Coarse hair texture
|
0002208 |
| Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Joint hypermobility |
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ]
|
0001382 |
| Long philtrum | 0000343 | |
| Motor delay | 0001270 | |
| Patent ductus arteriosus | 0001643 | |
| Platybasia | 0002691 | |
| Sclerosis of skull base |
Dense bone of skull base
|
0002694 |
| Short nasal bridge |
Decreased length of bridge of nose
Decreased length of nasal bridge
Short bridge of nose
[ more ]
|
0003194 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Vertebral fusion |
Spinal fusion
|
0002948 |
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.
