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 | ||
| Aortic valve stenosis |
Narrowing of aortic valve
|
0001650 |
|
Cleft roof of mouth
|
0000175 | |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
| Narrow mouth |
Small mouth
|
0000160 |
| Turricephaly |
Tall shaped skull
Tower skull shape
[ more ]
|
0000262 |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Broad nasal tip |
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ]
|
0000455 |
| Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
| Caudal appendage |
Human tail
|
0002825 |
| High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ]
|
0002705 |
| Highly arched eyebrow |
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ]
|
0002553 |
| Horseshoe kidney |
Horseshoe kidneys
|
0000085 |
| Hydronephrosis | 0000126 | |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypoplastic helices | 0008589 | |
| Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ]
|
0000294 |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Metatarsus adductus |
Front half of foot turns inward
|
0001840 |
| Microphthalmia |
Abnormally small eyeball
|
0000568 |
| Narrow forehead |
Decreased width of the forehead
|
0000341 |
| Oligodontia |
Failure of development of more than six teeth
|
0000677 |
| Pectus carinatum |
Pigeon chest
|
0000768 |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ]
|
0011220 |
| Prominent palatine ridges | 0010291 | |
|
Drooping upper eyelid
|
0000508 | |
| Rocker bottom foot |
Rocker bottom feet
Rocker-bottom feet
Rockerbottom feet
[ more ]
|
0001838 |
| Scaphocephaly | 0030799 | |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Single transverse palmar crease | 0000954 | |
| Slow-growing hair |
Slow growing hair
Slow rate of hair growth
Slow speed of hair growth
[ more ]
|
0002217 |
| Small earlobe |
Small earlobes
|
0000385 |
| Smooth philtrum | 0000319 | |
| Sparse hair | 0008070 | |
|
Webbed fingers or toes
|
0001159 | |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
| Telecanthus |
Corners of eye widely separated
|
0000506 |
| Ulnar deviation of the hand | 0009487 | |
| Underdeveloped nasal alae |
Underdeveloped tissue around nostril
|
0000430 |
| Ureteral stenosis |
Narrowing of the ureter
|
0000071 |
| Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ]
|
0006610 |
| Wide mouth |
Broad mouth
Large mouth
[ more ]
|
0000154 |
| 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 |
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.
