Orpha Number: 319171
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 |
|---|---|---|
| 5%-29% of people have these symptoms | ||
| Webbed neck |
Neck webbing
|
0000465 |
| Percent of people who have these symptoms is not available through HPO | ||
| Ankle clonus |
Abnormal rhythmic movements of ankle
|
0011448 |
| Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
| 0000006 | ||
| Broad hallux |
Broad big toe
Wide big toe
[ more ]
|
0010055 |
| 0001466 | ||
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Elbow flexion |
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ]
|
0002987 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Global |
0001263 | |
| High forehead | 0000348 | |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Highly arched eyebrow |
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ]
|
0002553 |
|
Too much cerebrospinal fluid in the brain
|
0000238 | |
| Hyperactive deep tendon reflexes | 0006801 | |
| Inverted nipples | 0003186 | |
| Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ]
|
0001388 |
| Knee flexion contracture | 0006380 | |
| Long hallux |
Long big toe
|
0001847 |
| Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ]
|
0000426 |
| Proximal placement of thumb |
Attachment of thumb close to wrist
|
0009623 |
| Short chin |
Decreased height of chin
Short lower third of face
[ more ]
|
0000331 |
| Short foot |
Short feet
Small feet
[ more ]
|
0001773 |
| Short neck |
Decreased length of neck
|
0000470 |
| Short palm | 0004279 | |
| Sleep disturbance |
Difficulty sleeping
Trouble sleeping
[ more ]
|
0002360 |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
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.
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.
National Family Health History Day
November 20, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018
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