Orpha Number: 2013
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 | ||
Cleft roof of mouth
|
0000175 | |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
Macrotia |
Large ears
|
0000400 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Decreased body height
Small stature
[ more ]
|
0004322 | |
30%-79% of people have these symptoms | ||
Aplasia/Hypoplasia of the nipples |
Absent/small nipples
Absent/underdeveloped nipples
[ more ]
|
0006709 |
Elfin facies |
Elf-like facial appearance
Elf-like facial features
[ more ]
|
0004428 |
Gingival overgrowth |
Gum enlargement
|
0000212 |
Global |
0001263 | |
Hypoplastic toenails |
Underdeveloped toenails
|
0001800 |
Hypospadias | 0000047 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Pectus excavatum |
Funnel chest
|
0000767 |
Protruding ear |
Prominent ear
Prominent ears
[ more ]
|
0000411 |
Drooping upper eyelid
|
0000508 | |
Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ]
|
0003202 |
Ulnar deviation of finger |
Finger bends toward pinky
|
0009465 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the skin | 0000951 | |
0000006 | ||
Cystic renal dysplasia | 0000800 | |
Proximal renal tubular acidosis | 0002049 | |
Tapered finger |
Tapered fingertips
Tapering fingers
[ more ]
|
0001182 |
Ulnar deviation of the 3rd finger | 0009463 |
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.