Orpha Number: 264200
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 | ||
Anophthalmia |
Absence of eyeballs
Failure of development of eyeball
Missing eyeball
No eyeball
[ more ]
|
0000528 |
Atresia of the external auditory canal |
Absent ear canal
|
0000413 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
Cupped ear |
Cup-shaped ears
Simple, cup-shaped ears
[ more ]
|
0000378 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ]
|
0002714 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
Global |
0001263 | |
High forehead | 0000348 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Muscular |
Low or weak muscle tone
|
0001252 |
Optic nerve aplasia | 0012521 | |
Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
Preauricular skin tag | 0000384 | |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
Drooping upper eyelid
|
0000508 | |
Scrotal hypoplasia |
Smaller than typical growth of scrotum
|
0000046 |
Decreased body height
Small stature
[ more ]
|
0004322 | |
30%-79% of people have these symptoms | ||
Agenesis of |
0001274 | |
Anterior pituitary hypoplasia |
Underdeveloped pituitary gland
|
0010627 |
Brachycephaly |
Short and broad skull
|
0000248 |
Diabetes insipidus | 0000873 | |
Malar flattening |
Zygomatic flattening
|
0000272 |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Underdeveloped nasal alae |
Underdeveloped tissue around nostril
|
0000430 |
Ventriculomegaly | 0002119 | |
5%-29% of people have these symptoms | ||
Adrenal hypoplasia |
Small adrenal glands
|
0000835 |
Bilateral single transverse palmar creases | 0007598 | |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Decreased fetal movement |
Less than 10 fetal movements in 12 hours
|
0001558 |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
Finger |
0006101 | |
Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
Renal hypoplasia |
Small kidneys
Underdeveloped kidneys
[ more ]
|
0000089 |
Short 4th metacarpal |
Shortened 4th long bone of hand
|
0010044 |
Short 5th metacarpal |
Shortened 5th long bone of hand
|
0010047 |
Short foot |
Short feet
Small feet
[ more ]
|
0001773 |
Short palm | 0004279 | |
Toe syndactyly |
Fused toes
Webbed toes
[ more ]
|
0001770 |
Percent of people who have these symptoms is not available through HPO | ||
0000006 |
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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