Other signs and symptoms may include:
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||
|80%-99% of people have these symptoms|
Long slender fingers
Spider fingers[ more ]
|Ascending tubular aorta aneurysm||
Bulging of wall of large artery located above heart
Chronic extreme exhaustion
|Disproportionate tall stature||0001519|
Flat foot[ more ]
Spontaneous collapsed lung
|30%-79% of people have these symptoms|
|Abnormality of malar bones||0012369|
Joint pain/Joint inflammation
Overcrowding of teeth[ more ]
|High, narrow palate||
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth[ more ]
|Increased axial length of the globe||
Increased front to back length of eyeball
Increased mobility of joints[ more ]
Dislocated lenses[ more ]
Partially dislocated lens
|Mitral valve prolapse||0001634|
Nearsightedness[ more ]
Decreased breadth of face
Decreased width of face[ more ]
Abnormal curving of the spine
Trouble sleeping[ more ]
Loss of eyesight
Poor vision[ more ]
|5%-29% of people have these symptoms|
|Ascending aortic dissection||0004933|
|Attention deficit hyperactivity disorder||
Attention deficit disorder
Attention deficit-hyperactivity disorder
Childhood attention deficit/hyperactivity disorder[ more ]
Cleft roof of mouth
|Congestive heart failure||
Heart failure[ more ]
|Descending aortic dissection||0012499|
|Dilatation of an abdominal artery||0002636|
Long, narrow head
Tall and narrow skull[ more ]
|Downslanted palpebral fissures||
Downward slanting of the opening between the eyelids
Coughing up blood
|Hypoplasia of the iris||
Round back[ more ]
|Limited elbow movement||
Decreased elbow mobility
Limited elbow mobility
Restricted elbow motion[ more ]
Little lower jaw
Small lower jaw[ more ]
|Mitral valve calcification||0004382|
Low or weak muscle tone
Muscle pain[ more ]
Absence of overlap of upper and lower teeth
Open bite between upper and lower teeth[ more ]
|Pulmonary artery dilatation||0004927|
Receding lower jaw
Weak jaw[ more ]
|Skeletal muscle atrophy||
Muscle wasting[ more ]
Displacement of one backbone compared to another
Slipped backbone[ more ]
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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
Differential diagnoses include MASS syndrome, Shprintzen-Goldberg syndrome, mitral valve prolapse, Ehlers-Danlos syndrome and other diseases that present with aortic aneurysm such as 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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