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 |
|---|---|---|
| 5%-29% of people have these symptoms | ||
| Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ]
|
0011675 |
| 0001250 | ||
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormally large globe |
Increased size of eyes
Large eyes
[ more ]
|
0001090 |
| Adipose |
Loss of fat tissue
|
0008887 |
|
Low number of red blood cells or hemoglobin
|
0001903 | |
| Arthralgia |
Joint pain
|
0002829 |
| 0000007 | ||
| Basal ganglia calcification | 0002135 | |
| Bone pain | 0002653 | |
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| Cardiomegaly |
Enlarged heart
Increased heart size
[ more ]
|
0001640 |
| Clubbing of fingers |
Clubbed fingers
Clubbing (hands)
Finger clubbing
[ more ]
|
0100759 |
| Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ]
|
0001635 |
| Conjunctivitis |
Pink eye
|
0000509 |
| Elbow flexion |
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ]
|
0002987 |
| Elevated |
High ESR
|
0003565 |
| Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
| Episcleritis |
Inflammation of the thin layer on top of the white part of eye
|
0100534 |
| Erythema | 0010783 | |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Finger swelling | 0025131 | |
| Flexion contracture of toe | 0005830 | |
| Growth abnormality |
Abnormal growth
Growth issue
[ more ]
|
0001507 |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Hyperpigmentation of the skin |
Patchy darkened skin
|
0000953 |
| Hypertriglyceridemia |
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ]
|
0002155 |
| Increased circulating |
0010702 | |
|
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 | |
| Lipodystrophy |
Inability to make and keep healthy fat tissue
|
0009125 |
| Long fingers | 0100807 | |
| Lymphadenopathy |
Swollen lymph nodes
|
0002716 |
| Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ]
|
0000158 |
| Macrotia |
Large ears
|
0000400 |
| Microcytic anemia | 0001935 | |
| Muscle weakness |
Muscular weakness
|
0001324 |
| Osteopenia | 0000938 | |
| Panniculitis |
Inflammation of fat tissue
|
0012490 |
| Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ]
|
0000448 |
| Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ]
|
0003202 |
| Splenomegaly |
Increased spleen size
|
0001744 |
| Stiff skin | 0030053 | |
| Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ]
|
0000179 |
|
Low platelet count
|
0001873 | |
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.
