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 | |
Aplasia/Hypoplasia of the clavicles |
Absent/small collarbone
Absent/underdeveloped collarbone
[ more ]
|
0006710 |
Dermal atrophy |
Skin degeneration
|
0004334 |
Large fontanelles |
Wide fontanelles
|
0000239 |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Narrow mouth |
Small mouth
|
0000160 |
Osteolytic defects of the distal phalanges of the hand | 0009839 | |
Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
Thin skin | 0000963 | |
30%-79% of people have these symptoms | ||
Abnormal fingertip morphology |
Abnormality of the fingertips
|
0001211 |
Abnormality of the dentition |
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ]
|
0000164 |
Alopecia |
Hair loss
|
0001596 |
Calcinosis |
Calcium buildup in soft tissues of body
|
0003761 |
Convex nasal ridge |
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ]
|
0000444 |
Generalized lipodystrophy | 0009064 | |
Hyperlipidemia |
Elevated lipids in blood
|
0003077 |
Hyperpigmentation of the skin |
Patchy darkened skin
|
0000953 |
Insulin resistance |
Body fails to respond to insulin
|
0000855 |
Nail dystrophy |
Poor nail formation
|
0008404 |
Progeroid facial appearance |
Premature aged appearance
|
0005328 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
Decreased body height
Small stature
[ more ]
|
0004322 | |
5%-29% of people have these symptoms | ||
Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ]
|
0000823 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of hair texture | 0010719 | |
Abnormality of the neck | 0000464 | |
0000007 | ||
Bird-like facies |
Bird-like facial appearance
|
0000320 |
Brittle hair | 0002299 | |
Decreased adipose |
Loss of fat around neck
|
0005995 |
Delayed cranial suture closure | 0000270 | |
Dental crowding |
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ]
|
0000678 |
Flexion |
Flexed joint that cannot be straightened
|
0001371 |
High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
Hyperglycemia |
High blood sugar
|
0003074 |
Hyperinsulinemia | 0000842 | |
Hypoplasia of teeth | 0000685 | |
Insulin-resistant |
Insulin resistant diabetes
Insulin-resistant diabetes
[ more ]
|
0000831 |
Loss of facial adipose tissue |
Decreased amount of facial fat
Loss of facial fat
[ more ]
|
0000292 |
Loss of subcutaneous adipose tissue in limbs |
Loss of fat tissue below the skin in limbs
|
0003635 |
Loss of truncal subcutaneous adipose tissue |
Loss of fat tissue in trunk
|
0009002 |
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 | |
Short clavicles |
Short collarbone
|
0000894 |
Short phalanx of finger |
Short finger bones
|
0009803 |
Sparse hair | 0008070 | |
Wormian bones |
Extra bones within cranial sutures
|
0002645 |
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.