Orpha Number: 3304
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 | ||
IQ less than 20
|
0002187 | |
Protruding ear |
Prominent ear
Prominent ears
[ more ]
|
0000411 |
Severe failure to thrive |
Severe faltering weight
Severe weight faltering
[ more ]
|
0001525 |
30%-79% of people have these symptoms | ||
2-3 toe |
Webbed 2nd and 3rd toes
|
0004691 |
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ]
|
0001631 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
Double outlet right ventricle | 0001719 | |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Frontal hirsutism |
Hairy forehead
|
0011335 |
High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
Macrotia |
Large ears
|
0000400 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Pulmonic stenosis |
Narrowing of pulmonic valve
|
0001642 |
Severe global |
0011344 | |
Single transverse palmar crease | 0000954 | |
Tetralogy of Fallot | 0001636 | |
5%-29% of people have these symptoms | ||
Clubbing of fingers |
Clubbed fingers
Clubbing (hands)
Finger clubbing
[ more ]
|
0100759 |
Clubbing of toes | 0100760 | |
Cyanosis |
Blue discoloration of the skin
|
0000961 |
High forehead | 0000348 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Hypoplastic nasal tip |
Decreased size of nasal tip
Decreased size of tip of nose
Small nasal tip
Small tip of nose
Underdevelopment of nasal tip
Underdevelopment of tip of nose
[ more ]
|
0005278 |
Opisthotonus | 0002179 | |
Overriding aorta | 0002623 | |
Patent ductus arteriosus | 0001643 | |
Persistent left superior vena cava | 0005301 | |
Recurrent otitis media |
Recurrent middle ear infection
|
0000403 |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
Thin upper lip vermilion |
Thin upper lip
|
0000219 |
Unilateral |
Dropping of one upper eyelid
|
0007687 |
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 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the face |
Abnormal face
Facial abnormality
[ more ]
|
0000271 |
0000007 | ||
Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
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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