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 | ||
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| 5%-29% of people have these symptoms | ||
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal anterior chamber morphology | 0000593 | |
| Abnormal facial shape |
Unusual facial appearance
|
0001999 |
| Abnormality of the duodenum | 0002246 | |
| Abnormality of the mouth |
Abnormal mouth
|
0000153 |
| Adducted thumb |
Inward turned thumb
|
0001181 |
| Arachnodactyly |
Long slender fingers
Spider slender fingers
[ more ]
|
0001166 |
| Arthrogryposis multiplex congenita | 0002804 | |
| Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
|
0001631 |
| 0000007 | ||
| Blue sclerae |
Whites of eyes are a bluish-gray color
|
0000592 |
| Brachycephaly |
Short and broad skull
|
0000248 |
| Broad forehead |
Increased width of the forehead
Wide forehead
[ more ]
|
0000337 |
| Bruising |
Bruise easily
Easy bruisability
Easy bruising
[ more ]
|
0000978 |
| 0000175 | ||
| Constipation | 0002019 | |
| Delayed cranial suture closure | 0000270 | |
| Diastasis recti | 0001540 | |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ]
|
0000324 |
| Flat forehead |
Flattened forehead
|
0004425 |
| Fragile skin |
Skin fragility
|
0001030 |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Generalized joint laxity |
Increased joint mobility
|
0002761 |
| 0000501 | ||
| Global |
0001263 | |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| Hiatus hernia |
Stomach hernia
|
0002036 |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Hydronephrosis | 0000126 | |
| Hyperextensible skin |
Hyperelastic skin
Skin hyperelasticity
Stretchable skin
[ more ]
|
0000974 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Intestinal malrotation | 0002566 | |
| Joint dislocation |
Joint dislocations
Recurrent joint dislocations
[ more ]
|
0001373 |
| Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ]
|
0001388 |
| Large fontanelles |
Wide fontanelles
|
0000239 |
| Long philtrum | 0000343 | |
| Microcornea | 0000482 | |
| Microretrognathia | 0000308 | |
| Motor delay | 0001270 | |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
| Narrow mouth |
Small mouth
|
0000160 |
| Nephrotic |
0000100 | |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Pneumothorax |
Collapsed lung
|
0002107 |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Protruding ear |
Prominent ear
Prominent ears
[ more ]
|
0000411 |
| Recurrent skin infections |
Skin infections
Skin infections, recurrent
[ more ]
|
0001581 |
| Retinal detachment |
Detached retina
|
0000541 |
| Scarring | 0100699 | |
|
Abnormal curving of the spine
|
0002650 | |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
| Telecanthus |
Corners of eye widely separated
|
0000506 |
| Thin upper lip vermilion |
Thin upper lip
|
0000219 |
| Umbilical hernia | 0001537 | |
| Ventriculomegaly | 0002119 | |
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.
NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018
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