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 | ||
Abnormal facial shape |
Unusual facial appearance
|
0001999 |
Aplasia/Hypoplasia involving the nose |
Decreased nasal size
Decreased size of nose
[ more ]
|
0009924 |
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
|
0000684 |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
High forehead | 0000348 | |
Hypoplastic nasal bridge |
Decreased size of nasal bridge
Small bridge of nose
Small nasal bridge
[ more ]
|
0005281 |
Microdontia |
Decreased width of tooth
|
0000691 |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Reduced number of teeth |
Decreased tooth count
|
0009804 |
Severe short stature |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ]
|
0003510 |
Truncal obesity | 0001956 | |
30%-79% of people have these symptoms | ||
Abnormality of the elbow |
Abnormality of the elbows
|
0009811 |
Short fingers or toes
|
0001156 | |
Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ]
|
0000823 |
Hypoglycemia |
Low blood sugar
|
0001943 |
Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
Motor delay | 0001270 | |
Short toe |
Short toes
Stubby toes
[ more ]
|
0001831 |
Underdeveloped supraorbital ridges |
Flattened bony protrusion above eyes
|
0009891 |
5%-29% of people have these symptoms | ||
Blue sclerae |
Whites of eyes are a bluish-gray color
|
0000592 |
Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ]
|
0000457 |
High pitched voice | 0001620 | |
Hypercholesterolemia |
Elevated serum cholesterol
Elevated total cholesterol
Increased total cholesterol
[ more ]
|
0003124 |
Hypohidrosis |
Decreased ability to sweat
Decreased sweating
Sweating, decreased
[ more ]
|
0000966 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Osteoarthritis |
Degenerative joint disease
|
0002758 |
Prematurely aged appearance |
Precociously senile appearance
|
0007495 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal joint morphology |
Abnormal shape of joints
Abnormality of the joints
Anomaly of the joints
[ more ]
|
0001367 |
Abnormality of metabolism/homeostasis |
Laboratory abnormality
Metabolism abnormality
[ more ]
|
0001939 |
0000007 | ||
Delayed menarche |
Delayed start of first period
|
0012569 |
Limb undergrowth |
limb shortening
Short limb
Short limbs
[ more ]
|
0009826 |
Short long bone |
Long bone shortening
|
0003026 |
Small face |
Short and narrow face
Small facies
[ more ]
|
0000274 |
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.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
The differential diagnosis should include severe growth hormone deficiency (GHD) and growth delay due to IGF-I resistance (see this term), as well as secondary IGF-I deficiency mostly due to nutritional problems or chronic pediatric diseases.
Visit the
Orphanet disease page
for more information.
|
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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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. Submit a new question
My grandson has the condition. I want to know if there is medication that will result in a normal stature. See answer