Orpha Number: 3134
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 |
|---|---|---|
| 30%-79% of people have these symptoms | ||
| Abnormal form of the vertebral bodies | 0003312 | |
| Bifid scrotum |
Cleft of scrotum
|
0000048 |
| Coarse facial features |
Coarse facial appearance
|
0000280 |
| 0001363 | ||
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Cutis laxa |
Loose and inelastic skin
|
0000973 |
| Diastasis recti |
Gap between large left and right abdominal muscles
|
0001540 |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Hepatocellular adenoma | 0012028 | |
| Hypocalcification of dental enamel |
Decreased enamel calcification
Poorly calcified tooth enamel
[ more ]
|
0011084 |
| Hypoplasia of dental enamel |
Underdeveloped teeth enamel
|
0006297 |
| Inguinal hernia | 0000023 | |
|
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 | |
| Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
| Long philtrum | 0000343 | |
| Low posterior hairline |
Low hairline at back of neck
|
0002162 |
| Low-set, posteriorly rotated ears | 0000368 | |
| Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
| Pectus carinatum |
Pigeon chest
|
0000768 |
| Perineal hypospadias | 0000051 | |
|
Drooping upper eyelid
|
0000508 | |
| Short neck |
Decreased length of neck
|
0000470 |
| Short sternum | 0000879 | |
| Sparse hair | 0008070 | |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Umbilical hernia | 0001537 | |
| Webbed neck |
Neck webbing
|
0000465 |
| Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ]
|
0006610 |
| Wide nasal base |
Broad base of nose
Broad nasal base
Increased width of base of nose
Increased width of nasal base
Wide base of nose
[ more ]
|
0012810 |
| 5%-29% of people have these symptoms | ||
| Hypoplastic nipples |
Small nipples
|
0002557 |
| Intellectual disability, moderate |
IQ between 34 and 49
|
0002342 |
| Percent of people who have these symptoms is not available through HPO | ||
| Barrel-shaped chest |
Barrel chest
|
0001552 |
| Coronal craniosynostosis | 0004440 | |
| Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 |
| Lambdoidal craniosynostosis | 0004443 | |
| Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ]
|
0000294 |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ]
|
0000426 |
| Short chin |
Decreased height of chin
Short lower third of face
[ more ]
|
0000331 |
| Thickened nuchal skin fold |
Thickened skin folds of neck
Thickened skin over the neck
[ more ]
|
0000474 |
| Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ]
|
0000431 |
| 0001419 | ||
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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