Orpha Number: 1788
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 | ||
Hand oligodactyly |
Hand has less than 5 fingers
|
0001180 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Microretrognathia |
Small retruded chin
|
0000308 |
Microtia |
Small ears
Underdeveloped ears
[ more ]
|
0008551 |
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 |
30%-79% of people have these symptoms | ||
Abnormality of cardiovascular system morphology | 0030680 | |
Abnormality of |
Abnormal shape of pelvic girdle bone
|
0002644 |
Aplasia/Hypoplasia of the radius | 0006501 | |
Aplasia/Hypoplasia of the ulna |
Absence/underdevelopment of inner forearm bone
|
0006495 |
Aqueductal stenosis | 0002410 | |
Arrhinencephaly | 0002139 | |
Fibular hypoplasia |
Short calf bone
|
0003038 |
Radioulnar synostosis |
Fused forearm bones
|
0002974 |
Sprengel anomaly |
High shoulder blade
|
0000912 |
5%-29% of people have these symptoms | ||
Abnormal form of the vertebral bodies | 0003312 | |
Abnormality of the uterus |
Uterine abnormalities
Uterine malformations
[ more ]
|
0000130 |
Finger |
0006101 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
Renal hypoplasia/aplasia |
Absent/small kidney
Absent/underdeveloped kidney
[ more ]
|
0008678 |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
Percent of people who have these symptoms is not available through HPO | ||
11 pairs of ribs | 0000878 | |
Absent forearm | 0005632 | |
0000007 | ||
Clinodactyly |
Permanent curving of the finger
|
0030084 |
Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ]
|
0000490 |
Deep-set nails | 0001814 | |
High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Narrow mouth |
Small mouth
|
0000160 |
Oligodactyly | 0012165 | |
Overlapping toe |
Overlapping toes
Overriding toes
[ more ]
|
0001845 |
Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ]
|
0000448 |
Short philtrum | 0000322 | |
Decreased body height
Small stature
[ more ]
|
0004322 | |
Short tibia |
Short shinbone
Short skankbone
[ more ]
|
0005736 |
Single transverse palmar crease | 0000954 | |
Thin skin | 0000963 | |
Triphalangeal thumb |
Finger-like thumb
|
0001199 |
Wide anterior fontanel |
Wider-than-typical soft spot of skull
|
0000260 |
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.
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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