Orpha Number: 2463
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 | ||
| Disproportionate tall stature | 0001519 | |
| Eunuchoid habitus | 0003782 | |
| Global |
0001263 | |
| Increased arm span | 0012771 | |
| Joint hypermobility |
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ]
|
0001382 |
| Slender long bone |
Long bones slender
Thin long bones
[ more ]
|
0003100 |
| 30%-79% of people have these symptoms | ||
| Abnormality of the columella | 0009929 | |
| Abnormality of the palpebral fissures |
Abnormality of the opening between the eyelids
|
0008050 |
| Arachnodactyly |
Long slender fingers
Spider fingers
[ more ]
|
0001166 |
| Broad chin |
Increased width of chin
Wide chin
[ more ]
|
0011822 |
| Coarse facial features |
Coarse facial appearance
|
0000280 |
| Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ]
|
0000268 |
| Flat face |
Flat facial shape
|
0012368 |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypoplasia of the musculature |
Poorly developed skeletal musculature
Underdeveloped muscle
[ more ]
|
0009004 |
| Long foot |
Disproportionately large feet
large feet
long feet
[ more ]
|
0001833 |
| Macrotia |
Large ears
|
0000400 |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Narrow mouth |
Small mouth
|
0000160 |
| Osteopenia | 0000938 | |
| Pectus excavatum |
Funnel chest
|
0000767 |
| Small hypothenar eminence | 0010487 | |
| Subcortical cerebral atrophy | 0012157 | |
| Thenar muscle atrophy | 0003393 | |
| Thin metacarpal cortices | 0006086 | |
| Thin metatarsal cortices | 0008078 | |
| Thin ribs |
Slender ribs
|
0000883 |
| Wide nose |
Broad nose
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
[ more ]
|
0000445 |
| 5%-29% of people have these symptoms | ||
| Abnormality of the thymus | 0000777 | |
| Broad philtrum | 0000289 | |
| Cardiomegaly |
Enlarged heart
Increased heart size
[ more ]
|
0001640 |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| Esotropia |
Inward turning cross eyed
|
0000565 |
| Hirsutism |
Excessive hairiness
|
0001007 |
| Loss of truncal subcutaneous adipose |
Loss of fat tissue in trunk
|
0009002 |
| Low posterior hairline |
Low hairline at back of neck
|
0002162 |
| Lumbar hemivertebrae | 0008439 | |
| Mucosal telangiectasiae | 0100579 | |
| Synophrys |
Monobrow
Unibrow
[ more ]
|
0000664 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Psychomotor retardation | 0025356 | |
| Reduced subcutaneous adipose tissue |
Reduced fat tissue below the skin
|
0003758 |
| Tall stature |
Increased body height
|
0000098 |
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.
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.
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