Orpha Number: 2983
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 | ||
Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ]
|
0000490 |
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ]
|
0002714 |
Genu valgum |
Knock knees
|
0002857 |
Decreased activity of gonads
|
0000135 | |
Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
Low posterior hairline |
Low hairline at back of neck
|
0002162 |
Low-set, posteriorly rotated ears | 0000368 | |
Microtia |
Small ears
Underdeveloped ears
[ more ]
|
0008551 |
Reduced bone mineral density |
Low solidness and mass of the bones
|
0004349 |
Scrotal hypoplasia |
Smaller than typical growth of scrotum
|
0000046 |
Severe sensorineural hearing impairment | 0008625 | |
Short neck |
Decreased length of neck
|
0000470 |
Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
Short philtrum | 0000322 | |
Short thorax |
Shorter than typical length between neck and abdomen
|
0010306 |
Spina bifida occulta | 0003298 | |
Synophrys |
Monobrow
Unibrow
[ more ]
|
0000664 |
Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ]
|
0000233 |
Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ]
|
0006610 |
Percent of people who have these symptoms is not available through HPO | ||
Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ]
|
0001344 |
0000007 | ||
Bilateral microphthalmos |
Abnormally small eyeball on both sides
|
0007633 |
Cervical spina bifida | 0005857 | |
Chorioretinal coloboma |
Birth defect that causes a hole in the innermost layer at the back of the eye
|
0000567 |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Male pseudohermaphroditism | 0000037 | |
Narrow palpebral fissure |
Small opening between the eyelids
|
0045025 |
Obesity |
Having too much body fat
|
0001513 |
Postnatal growth retardation |
Growth delay as children
|
0008897 |
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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.