Orpha Number: 1145
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 | ||
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ]
|
0001288 |
Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
30%-79% of people have these symptoms | ||
Adducted thumb |
Inward turned thumb
|
0001181 |
Bilateral single transverse palmar creases | 0007598 | |
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ]
|
0100543 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ]
|
0000268 |
Failure to thrive in infancy |
Faltering weight in infancy
Weight faltering in infancy
[ more ]
|
0001531 |
Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
Long philtrum | 0000343 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Narrow chest |
Low chest circumference
Narrow shoulders
[ more ]
|
0000774 |
Proximal placement of thumb |
Attachment of thumb close to wrist
|
0009623 |
0002650 | ||
Short neck |
Decreased length of neck
|
0000470 |
Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
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 |
5%-29% of people have these symptoms | ||
Abnormal fingernail morphology |
Abnormal fingernails
Abnormality of the fingernails
[ more ]
|
0001231 |
Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
Macrotia |
Large ears
|
0000400 |
Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ]
|
0000194 |
Drooping upper eyelid
|
0000508 | |
0001250 | ||
Skin dimple | 0010781 | |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
Thickened nuchal skin fold |
Thickened skin folds of neck
Thickened skin over the neck
[ more ]
|
0000474 |
Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ]
|
0006610 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of metabolism/homeostasis |
Laboratory abnormality
Metabolism abnormality
[ more ]
|
0001939 |
Areflexia |
Absent tendon reflexes
|
0001284 |
Arthrogryposis multiplex congenita | 0002804 | |
Decreased fetal movement |
Less than 10 fetal movements in 12 hours
|
0001558 |
Degeneration of anterior horn |
0002398 | |
Facial palsy |
Bell's palsy
|
0010628 |
Hypospadias | 0000047 | |
Inguinal hernia | 0000023 | |
Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
Multiple joint |
0002828 | |
Myopathic facies | 0002058 | |
Myopathy |
Muscle tissue disease
|
0003198 |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
Respiratory insufficiency due to muscle weakness |
Decreased lung function due to weak breathing muscles
|
0002747 |
Severe muscular hypotonia |
Severely decreased muscle tone
|
0006829 |
Spinal muscular atrophy |
Spinal muscle degeneration
Spinal muscle wasting
[ more ]
|
0007269 |
Tongue fasciculations |
Tongue twitching
Twitching of the tongue
[ more ]
|
0001308 |
0001419 |
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.
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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