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 | ||
| Acroosteolysis of distal phalanges (feet) | 0001870 | |
| Alopecia |
Hair loss
|
0001596 |
| Aplasia/Hypoplasia of the clavicles |
Absent/small collarbone
Absent/underdeveloped collarbone
[ more ]
|
0006710 |
| Dermal atrophy |
Skin degeneration
|
0004334 |
| Large fontanelles |
Wide fontanelles
|
0000239 |
| Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ]
|
0001376 |
| Osteolytic defects of the distal phalanges of the hand | 0009839 | |
| Progeroid facial appearance |
Premature aged appearance
|
0005328 |
| Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Thin skin | 0000963 | |
| Wormian bones |
Extra bones within cranial sutures
|
0002645 |
| 30%-79% of people have these symptoms | ||
| Abnormal eyebrow morphology |
Abnormality of the eyebrow
|
0000534 |
| Hyperlipidemia |
Elevated lipids in blood
|
0003077 |
| Insulin resistance |
Body fails to respond to insulin
|
0000855 |
| Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
| 5%-29% of people have these symptoms | ||
| Abnormality of the dentition |
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ]
|
0000164 |
| Absent eyelashes |
Failure of development of eyelashes
|
0000561 |
| Arthralgia |
Joint pain
|
0002829 |
| Breast aplasia |
Absent breast
|
0100783 |
|
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
| Flexion |
Flexed joint that cannot be straightened
|
0001371 |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Hyperpigmentation of the skin |
Patchy darkened skin
|
0000953 |
| Lack of skin elasticity | 0100679 | |
| Muscular |
Low or weak muscle tone
|
0001252 |
| 1%-4% of people have these symptoms | ||
| Calcinosis |
Calcium buildup in soft tissues of body
|
0003761 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Bird-like facies |
Bird-like facial appearance
|
0000320 |
| Hyperglycemia |
High blood sugar
|
0003074 |
| Impaired glucose tolerance | 0040270 | |
| Increased facial adipose |
Increased amount of facial fat
|
0000287 |
| Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
| Juvenile onset |
Signs and symptoms begin before 15 years of age
|
0003621 |
| Lipodystrophy |
Inability to make and keep healthy fat tissue
|
0009125 |
| Mottled pigmentation |
Mottled skin coloring
|
0001070 |
| Narrow nasal ridge |
Decreased width of nasal ridge
Pinched nose
Thin nasal ridge
[ more ]
|
0000418 |
| Premature loss of teeth |
Early tooth loss
Loss of teeth
Premature teeth loss
Premature tooth loss
[ more ]
|
0006480 |
| Progressive clavicular acroosteolysis | 0000905 | |
| Reduced subcutaneous adipose tissue |
Reduced fat tissue below the skin
|
0003758 |
| Sparse scalp hair |
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ]
|
0002209 |
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.
