Orpha Number: 1135
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 | ||
| Aplasia/Hypoplasia involving the nose |
Decreased nasal size
Decreased size of nose
[ more ]
|
0009924 |
| Microphthalmia |
Abnormally small eyeball
|
0000568 |
| Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
| 30%-79% of people have these symptoms | ||
| Abnormality of the sense of smell |
Abnormal sense of smell
Smell defect
[ more ]
|
0004408 |
| Choanal atresia |
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ]
|
0000453 |
|
Cleft roof of mouth
|
0000175 | |
| High palate |
Increased palatal height
Elevated palate
[ more ]
|
0000218 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypogonadotropic |
0000044 | |
| Inguinal hernia | 0000023 | |
| Lacrimation abnormality |
Abnormality of tear production
|
0000632 |
| Reduced number of teeth |
Decreased tooth count
|
0009804 |
| 5%-29% of people have these symptoms | ||
| Hypoplastic labia majora |
Small labia majora
Underdeveloped vaginal lips
[ more ]
|
0000059 |
| Hypospadias | 0000047 | |
| Synophrys |
Monobrow
Unibrow
[ more ]
|
0000664 |
| 1%-4% of people have these symptoms | ||
| Absent tragus | 0011268 | |
| Atresia of the external auditory canal |
Absent ear canal
|
0000413 |
|
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
| 0410030 | ||
| Coloboma |
Notched pupil
|
0000589 |
| Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
| Dental malocclusion |
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ]
|
0000689 |
| Hypoplasia of teeth | 0000685 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Lacrimal duct atresia |
Unopened tear duct
|
0000564 |
| Paranasal sinus hypoplasia | 0006784 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Anosmia |
Lost smell
|
0000458 |
| Aplasia of the nose |
Absent nose
Failure of development of nose
Nasal underdevelopment
Underdevelopment of nose
[ more ]
|
0009927 |
| 0000006 | ||
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
| Primary amenorrhea | 0000786 | |
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.
