Orpha Number: 217017
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 |
---|---|---|
30%-79% of people have these symptoms | ||
Abnormality of earlobe |
Abnormal earlobe
Abnormality of ear lobe
[ more ]
|
0000363 |
Abnormality of the helix | 0011039 | |
Abnormality of the posterior cranial fossa | 0000932 | |
Atretic occipital cephalocele | 0004470 | |
Cerebellar vermis hypoplasia | 0001320 | |
0410030 | ||
Cleft roof of mouth
|
0000175 | |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ]
|
0002714 |
Global |
0001263 | |
Long foot |
Disproportionately large feet
large feet
long feet
[ more ]
|
0001833 |
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 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
Narrow palpebral fissure |
Small opening between the eyelids
|
0045025 |
Oligodontia |
Failure of development of more than six teeth
|
0000677 |
Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ]
|
0011220 |
Sandal gap |
Gap between 1st and 2nd toes
Gap between first and second toe
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between 1st, 2nd toes
Wide space between first and second toes
Wide-spaced big toe
Widely spaced 1st-2nd toes
Widely spaced first and second toes
Widened gap 1st-2nd toes
Widened gap first and second toe
[ more ]
|
0001852 |
Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
Short metatarsal |
Short long bone of foot
|
0010743 |
Short palpebral fissure |
Short opening between the eyelids
|
0012745 |
Short philtrum | 0000322 | |
Small nail |
Small nails
|
0001792 |
Stenosis of the external auditory canal |
Narrowing of passageway from outer ear to middle ear
|
0000402 |
Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ]
|
0000233 |
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 |
Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ]
|
0000445 |
5%-29% of people have these symptoms | ||
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 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
Microtia |
Small ears
Underdeveloped ears
[ more ]
|
0008551 |
Postauricular skin tag |
Skin tag behind the ear
|
0004451 |
Thick hair |
Increased hair density
|
0100874 |
Widened subarachnoid space | 0012704 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal facial shape |
Unusual facial appearance
|
0001999 |
0000007 | ||
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Cephalocele | 0011815 | |
Cleft upper lip |
Harelip
|
0000204 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Underdeveloped nasal alae |
Underdeveloped tissue around nostril
|
0000430 |
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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