Orpha Number: 2328
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 | ||
| Bulbous nose | 0000414 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Iris coloboma |
Cat eye
|
0000612 |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Microphthalmia |
Abnormally small eyeball
|
0000568 |
| Oral cleft |
Cleft of the mouth
|
0000202 |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Retinal coloboma |
Hole in the back of the eye
|
0000480 |
| 30%-79% of people have these symptoms | ||
| Constipation | 0002019 | |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
| Hypoplastic labia majora |
Small labia majora
Underdeveloped vaginal lips
[ more ]
|
0000059 |
| Intestinal malrotation | 0002566 | |
| Short neck |
Decreased length of neck
|
0000470 |
| 5%-29% of people have these symptoms | ||
| Atresia of the external auditory canal |
Absent ear canal
|
0000413 |
| Dysplastic |
0006989 | |
| Pachygyria |
Fewer and broader ridges in brain
|
0001302 |
| Patent ductus arteriosus | 0001643 | |
| Polymicrogyria |
More grooves in brain
|
0002126 |
| Preauricular skin tag | 0000384 | |
| Tetralogy of Fallot | 0001636 | |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the urinary system |
Urinary tract abnormalities
Urinary tract abnormality
Urinary tract anomalies
[ more ]
|
0000079 |
| Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ]
|
0001631 |
| 0000007 | ||
| Bilateral single transverse palmar creases | 0007598 | |
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
|
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
|
Cleft roof of mouth
|
0000175 | |
| Cleft upper lip |
Harelip
|
0000204 |
| Clinodactyly of the 5th toe | 0001864 | |
| Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Intellectual disability, progressive |
Mental retardation, progressive
Progressive mental retardation
[ more ]
|
0006887 |
| Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
|
0010864 |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
| Joint |
0009473 | |
| Low hanging columella | 0009765 | |
| Low posterior hairline |
Low hairline at back of neck
|
0002162 |
| Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
| Overlapping fingers | 0010557 | |
| 0002650 | ||
| 0001250 | ||
| Short thumb |
Short thumbs
Small thumbs
[ more ]
|
0009778 |
| Single transverse palmar crease | 0000954 | |
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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