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 |
0002916 | |
| Dimple chin |
Chin butt
Chin dent
Chin dimple
Chin skin dimple
Indentation of chin
[ more ]
|
0010751 |
| Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ]
|
0000232 |
| Global |
0001263 | |
| High forehead | 0000348 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Long thorax |
Long rib cage
|
0100818 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Short neck |
Decreased length of neck
|
0000470 |
| Specific learning disability | 0001328 | |
| Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
| 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 |
| 30%-79% of people have these symptoms | ||
| Abnormal oral frenulum morphology | 0000190 | |
| Abnormality of cardiovascular system morphology | 0030680 | |
| Bifid tongue |
Cleft tongue
Forked tongue
Split tongue
[ more ]
|
0010297 |
| 0000175 | ||
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Displacement of the external urethral meatus | 0100627 | |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
| Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
| Low-set, posteriorly rotated ears | 0000368 | |
| Non-midline |
0100335 | |
| Protruding ear |
Prominent ear
Prominent ears
[ more ]
|
0000411 |
| 5%-29% of people have these symptoms | ||
| Bone cyst |
Bone cysts
|
0012062 |
|
Short fingers or toes
|
0001156 | |
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| Deep palmar crease |
Deep palm line
|
0006191 |
| Myelomeningocele | 0002475 | |
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.
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