Orpha Number: 1787
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 | ||
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
Finger |
0006101 | |
Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ]
|
0000294 |
Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
Oligodontia |
Failure of development of more than six teeth
|
0000677 |
Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
Short 4th metacarpal |
Shortened 4th long bone of hand
|
0010044 |
Decreased body height
Small stature
[ more ]
|
0004322 | |
Small hand |
Disproportionately small hands
|
0200055 |
Sparse eyelashes |
Scant eyelashes
Scanty eyelashes
Thin eyelashes
[ more ]
|
0000653 |
Sparse lateral eyebrow |
Limited hair on end of eyebrow
|
0005338 |
30%-79% of people have these symptoms | ||
Abnormal form of the vertebral bodies | 0003312 | |
Broad forehead |
Increased width of the forehead
Wide forehead
[ more ]
|
0000337 |
Bulbous nose | 0000414 | |
Increased number of teeth |
Extra teeth
Increased tooth count
Supplemental teeth
[ more ]
|
0011069 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Short neck |
Decreased length of neck
|
0000470 |
Thin eyebrow |
Thin eyebrows
|
0045074 |
5%-29% of people have these symptoms | ||
Dermal atrophy |
Skin degeneration
|
0004334 |
High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ]
|
0002705 |
Pili torti |
Flattened and twisted hair
|
0003777 |
0002650 | ||
Spina bifida occulta | 0003298 | |
Unilateral |
One sided cleft upper lip
|
0100333 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal vertebral morphology | 0003468 | |
Aplasia cutis congenita |
Absence of part of skin at birth
|
0001057 |
0000006 | ||
Cleft upper lip |
Harelip
|
0000204 |
Cutaneous finger syndactyly |
Webbed fingers
Webbed skin of fingers
[ more ]
|
0010554 |
Hypoplasia of the odontoid process | 0003311 | |
Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ]
|
0011220 |
Sparse eyebrow |
Sparse eyebrows
|
0045075 |
Spina bifida occulta at S1 | 0004614 |
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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