Orpha Number: 3218
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 | ||
| Abnormality of femoral epiphysis |
Abnormality of thighbone end part
|
0006499 |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| 30%-79% of people have these symptoms | ||
| Abnormal form of the vertebral bodies | 0003312 | |
| Global |
0001263 | |
| Hyperlordosis |
Prominent swayback
|
0003307 |
| Inguinal hernia | 0000023 | |
|
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 | |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
| Nasolacrimal duct obstruction |
Blocked tear duct
|
0000579 |
| Pointed chin |
Pointy chin
Small pointed chin
Witch's chin
[ more ]
|
0000307 |
| Short neck |
Decreased length of neck
|
0000470 |
| Short thorax |
Shorter than typical length between neck and abdomen
|
0010306 |
| Triangular face |
Face with broad temples and narrow chin
Triangular facial shape
[ more ]
|
0000325 |
| Umbilical hernia | 0001537 | |
| 5%-29% of people have these symptoms | ||
|
Short fingers or toes
|
0001156 | |
| Frontal bossing | 0002007 | |
| Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ]
|
0002167 |
| Retinal detachment |
Detached retina
|
0000541 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Epiphyseal dysplasia |
Abnormal development of the ends of long bones in arms and legs
|
0002656 |
| Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ]
|
0001510 |
| Intellectual disability, moderate |
IQ between 34 and 49
|
0002342 |
| Lacrimal duct stenosis |
Narrowing of the tear duct
|
0007678 |
| Sensorineural hearing impairment | 0000407 | |
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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