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 eyelash morphology |
Abnormal eyelashes
Abnormality of the eyelashes
Eyelash abnormality
[ more ]
|
0000499 |
Abnormal oral frenulum morphology | 0000190 | |
Aortic dissection |
Tear in inner wall of large artery that carries blood away from heart
|
0002647 |
Aplasia/Hypoplasia of the earlobes |
Absent/small ear lobes
Absent/underdeveloped ear lobes
[ more ]
|
0009906 |
Aplasia/Hypoplasia of the eyebrow |
Absence of eyebrow
Lack of eyebrow
Missing eyebrow
[ more ]
|
0100840 |
Bladder diverticulum | 0000015 | |
Bruising |
Bruise easily
Easy bruisability
Easy bruising
[ more ]
|
0000978 |
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ]
|
0000670 |
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ]
|
0100543 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
Dermal translucency | 0010648 | |
Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
Gastrointestinal infarctions |
Death of digestive organ tissue due to poor blood supply
|
0005244 |
Global |
0001263 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Hypokalemia |
Low blood potassium levels
|
0002900 |
Internal hemorrhage |
Internal bleeding
|
0011029 |
Macule |
Flat, discolored area of skin
|
0012733 |
Melanocytic nevus |
Beauty mark
|
0000995 |
Mitral valve prolapse | 0001634 | |
Pectus excavatum |
Funnel chest
|
0000767 |
Peripheral arteriovenous fistula | 0100784 | |
Pneumothorax |
Collapsed lung
|
0002107 |
Protruding ear |
Prominent ear
Prominent ears
[ more ]
|
0000411 |
Decreased body height
Small stature
[ more ]
|
0004322 | |
Sprengel anomaly |
High shoulder blade
|
0000912 |
Telecanthus |
Corners of eye widely separated
|
0000506 |
Thin skin | 0000963 | |
30%-79% of people have these symptoms | ||
Arterial dissection | 0005294 | |
Arteriovenous fistulas of celiac and mesenteric vessels | 0002642 | |
Flat face |
Flat facial shape
|
0012368 |
0000501 | ||
Premature birth |
Premature delivery of affected infants
Preterm delivery
[ more ]
|
0001622 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
Telangiectasia of the skin | 0100585 | |
Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ]
|
0000233 |
Varicose veins | 0002619 | |
5%-29% of people have these symptoms | ||
Abnormal intestine morphology |
Abnormality of the intestine
|
0002242 |
Abnormal pupil morphology |
Abnormality of the pupil
Pupillary abnormalities
Pupillary abnormality
[ more ]
|
0000615 |
Abnormality of hair texture | 0010719 | |
Alopecia |
Hair loss
|
0001596 |
Aplasia/Hypoplasia of the abdominal wall musculature |
Absent/small abdominal wall muscles
Absent/underdeveloped abdominal wall muscles
[ more ]
|
0010318 |
Ascending tubular aorta aneurysm |
Bulging of wall of large artery located above heart
|
0004970 |
Blue sclerae |
Whites of eyes are a bluish-gray color
|
0000592 |
Cigarette-paper scars |
'cigarette paper scarring'
Cigarette paper scarring
[ more ]
|
0001073 |
Dislocated hip since birth
|
0001374 | |
Cystocele |
Bladder hernia
Dropped bladder
[ more ]
|
0100645 |
Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ]
|
0000490 |
Excessive wrinkled skin | 0007392 | |
Gingival overgrowth |
Gum enlargement
|
0000212 |
Gingivitis |
Inflamed gums
Red and swollen gums
[ more ]
|
0000230 |
Hemoptysis |
Coughing up blood
|
0002105 |
High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ]
|
0002705 |
Hypoplastic lacrimal duct |
Underdeveloped tear duct
|
0007900 |
Hypospadias | 0000047 | |
Inguinal hernia | 0000023 | |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Keratoconus |
Bulging cornea
|
0000563 |
Microdontia |
Decreased width of tooth
|
0000691 |
Migraine |
Intermittent migraine headaches
Migraine headache
Migraine headaches
[ more ]
|
0002076 |
Narrow mouth |
Small mouth
|
0000160 |
Narrow nasal bridge |
Narrow bridge of nose
Nasal Bridge, Narrow
Nasal bridge, thin
[ more ]
|
0000446 |
Osteoarthritis |
Degenerative joint disease
|
0002758 |
Osteolysis |
Breakdown of bone
|
0002797 |
Periodontitis | 0000704 | |
Premature loss of primary teeth |
Early loss of baby teeth
Premature loss of baby teeth
[ more ]
|
0006323 |
Drooping upper eyelid
|
0000508 | |
Pulmonary artery aneurysm | 0004937 | |
Reduced consciousness/confusion |
Disturbances of consciousness
Lowered consciousness
[ more ]
|
0004372 |
Redundant skin |
Loose redundant skin
Redundant skin folds
Sagging, redundant skin
[ more ]
|
0001582 |
Renovascular |
0100817 | |
Sleep apnea |
Pauses in breathing while sleeping
|
0010535 |
Subcutaneous nodule |
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ]
|
0001482 |
Transient ischemic attack |
Mini stroke
|
0002326 |
Umbilical hernia | 0001537 | |
Uterine prolapse |
Sagging uterus
|
0000139 |
Uterine rupture | 0100718 | |
Vertigo |
Dizzy spell
|
0002321 |
1%-4% of people have these symptoms | ||
Carotid cavernous fistula | 0031157 | |
Percent of people who have these symptoms is not available through HPO | ||
Absent earlobe |
Earlobe, absent
Lobeless ears
[ more ]
|
0000387 |
Alopecia of scalp |
Pathologic hair loss from scalp
Scalp hair loss
[ more ]
|
0002293 |
0000006 | ||
Cervical insufficiency | 0030009 | |
Dilatation of the cerebral artery | 0004944 | |
Foot acroosteolysis | 0001842 | |
Fragile skin |
Skin fragility
|
0001030 |
Hypermobility of distal interphalangeal joints |
Increased mobility of outermost hinge joint
|
0006201 |
Molluscoid pseudotumors | 0000993 | |
Osteolytic defects of the phalanges of the hand |
Breakdown of small bones of fingers
|
0009771 |
Premature delivery because of cervical insufficiency or membrane fragility | 0005267 | |
Premature loss of teeth |
Early tooth loss
Loss of teeth
Premature teeth loss
Premature tooth loss
[ more ]
|
0006480 |
Spontaneous pneumothorax |
Spontaneous collapsed lung
|
0002108 |
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
|
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In childhood, coagulation disorders and Silverman's syndrome are the main differential diagnoses; in adulthood, the differential diagnosis includes other Ehlers-Danlos syndromes, Marfan syndrome and Loeys-Dietz syndrome (see these terms).
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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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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