Orpha Number: 90349
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 | ||
Dermatochalasis |
Baggy eyes
Droopy eyelid skin
Extra eyelid skin
Redundant eyelid skin
[ more ]
|
0010750 |
Emphysema | 0002097 | |
Fragmented elastic fibers in the dermis | 0025167 | |
Lack of skin elasticity | 0100679 | |
Redundant skin |
Loose redundant skin
Redundant skin folds
Sagging, redundant skin
[ more ]
|
0001582 |
30%-79% of people have these symptoms | ||
Abnormal facial shape |
Unusual facial appearance
|
0001999 |
Abnormal systemic arterial morphology | 0011004 | |
Abnormality of the cheek |
Abnormality of the cheeks
|
0004426 |
Abnormality of the thoracic cavity | 0045027 | |
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ]
|
0001635 |
Inguinal hernia | 0000023 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ]
|
0001388 |
Joint subluxation | 0032153 | |
Motor delay | 0001270 | |
Pathologic fracture |
Spontaneous fracture
|
0002756 |
Peripheral pulmonary artery stenosis |
Narrowing of peripheral lung artery
|
0004969 |
Pneumothorax |
Collapsed lung
|
0002107 |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
5%-29% of people have these symptoms | ||
Abnormal cardiac ventricular function | 0030872 | |
Abnormal skull morphology |
Abnormality of the skull
|
0000929 |
Dilatation of the ventricular cavity | 0006698 | |
Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ]
|
0002827 |
Multiple bladder diverticula |
Multiple pouches in bladder wall
|
0012619 |
Pyelonephritis | 0012330 | |
Pyloric stenosis | 0002021 | |
Recurrent pneumonia | 0006532 | |
Recurrent urinary tract infections |
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent
[ more ]
|
0000010 |
Small bowel diverticula | 0002256 | |
Supravalvular aortic stenosis | 0004381 | |
Urethral diverticulum | 0008722 | |
Vesicoureteral reflux | 0000076 | |
1%-4% of people have these symptoms | ||
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the face |
Abnormal face
Facial abnormality
[ more ]
|
0000271 |
Arachnodactyly |
Long slender fingers
Spider fingers
[ more ]
|
0001166 |
Ascending tubular aorta aneurysm |
Bulging of wall of large artery located above heart
|
0004970 |
0000007 | ||
Bladder diverticulum | 0000015 | |
0000776 | ||
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Oligohydramnios |
Low levels of amniotic fluid
|
0001562 |
Overgrowth |
General overgrowth
|
0001548 |
Pectus excavatum |
Funnel chest
|
0000767 |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
Umbilical hernia | 0001537 | |
Vascular tortuosity |
Twisted blood vessels
|
0004948 |
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.
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.
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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