Orpha Number: 1200
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 | ||
Bilateral choanal atresia |
Bilateral blockage of the rear opening of the nasal cavity
Bilateral obstruction of the rear opening of the nasal cavity
[ more ]
|
0004502 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Short palpebral fissure |
Short opening between the eyelids
|
0012745 |
30%-79% of people have these symptoms | ||
Abnormal cardiac septum morphology | 0001671 | |
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 |
5%-29% of people have these symptoms | ||
Abnormal palate morphology |
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ]
|
0000174 |
Abnormality of vision |
Abnormality of sight
Vision issue
[ more ]
|
0000504 |
Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
Decreased body height
Small stature
[ more ]
|
0004322 | |
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 | ||
2-3 toe |
Webbed 2nd and 3rd toes
|
0004691 |
Abnormality of metabolism/homeostasis |
Laboratory abnormality
Metabolism abnormality
[ more ]
|
0001939 |
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 |
0000007 | ||
Bifid uvula | 0000193 | |
Bilateral choanal atresia/stenosis | 0200138 | |
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Cleft upper lip |
Harelip
|
0000204 |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
Feeding difficulties in infancy | 0008872 | |
Hypomimic face |
Dull facial expression
|
0000338 |
Lower eyelid coloboma |
Cleft lower eyelid
Notched lower eyelid
[ more ]
|
0000652 |
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ]
|
0000303 |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Narrow mouth |
Small mouth
|
0000160 |
Preauricular skin tag | 0000384 | |
Protruding ear |
Prominent ear
Prominent ears
[ more ]
|
0000411 |
Renal hypoplasia |
Small kidneys
Underdeveloped kidneys
[ more ]
|
0000089 |
Short philtrum | 0000322 | |
Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ]
|
0000233 |
Underdeveloped nasal alae |
Underdeveloped tissue around nostril
|
0000430 |
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.
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.
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