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 | ||
| Broad foot |
Broad feet
Wide foot
[ more ]
|
0001769 |
| Camptodactyly of toe | 0001836 | |
| Coarse facial features |
Coarse facial appearance
|
0000280 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Decreased testicular size |
Small testes
Small testis
[ more ]
|
0008734 |
|
Enlarged male breast
|
0000771 | |
|
Decreased activity of gonads
|
0000135 | |
| Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Large earlobe |
Fleshy earlobe
Fleshy earlobes
Prominent ear lobes
prominent ear lobules
[ more ]
|
0009748 |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Scrotal hypoplasia |
Smaller than typical growth of scrotum
|
0000046 |
| Short toe |
Short toes
Stubby toes
[ more ]
|
0001831 |
| Sparse hair | 0008070 | |
| Tapered finger |
Tapered fingertips
Tapering fingers
[ more ]
|
0001182 |
| Truncal obesity | 0001956 | |
| 30%-79% of people have these symptoms | ||
| Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
| Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ]
|
0000490 |
| Feeding difficulties in infancy | 0008872 | |
| Prominent supraorbital ridges |
Prominent brow
|
0000336 |
|
Drooping upper eyelid
|
0000508 | |
| Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ]
|
0000574 |
| 5%-29% of people have these symptoms | ||
| Abnormality of the hip bone |
Abnormality of the hips
|
0003272 |
|
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Oral cleft |
Cleft of the mouth
|
0000202 |
| 0009830 | ||
| 0001250 | ||
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ]
|
0003202 |
| Percent of people who have these symptoms is not available through HPO | ||
| Cervical spinal canal stenosis | 0008445 | |
| Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ]
|
0000823 |
| 0002353 | ||
| Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Hypoplasia of the prostate |
Underdeveloped prostate
|
0008687 |
| Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
|
0010864 |
| Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
| Macrotia |
Large ears
|
0000400 |
| Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
| Narrow palpebral fissure |
Small opening between the eyelids
|
0045025 |
| Obesity |
Having too much body fat
|
0001513 |
| Scheuermann-like vertebral changes | 0008478 | |
| 0002650 | ||
| Shortening of all distal phalanges of the fingers |
Shortening of all outermost bones of the fingers
|
0006118 |
| Shortening of all middle phalanges of the fingers | 0006110 | |
| Thickened calvaria |
Increased thickness of skull cap
Thickened skull cap
[ more ]
|
0002684 |
| Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ]
|
0000505 |
| Widely spaced toes | 0008094 | |
| 0001419 | ||
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
