|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the vitreous humor||90%|
|Abnormality of the mitral valve||50%|
|Abnormality of vertebral epiphysis morphology||50%|
|Disproportionate tall stature||50%|
|Sensorineural hearing impairment||50%|
|Conductive hearing impairment||7.5%|
|Autosomal dominant inheritance||-|
|Beaking of vertebral bodies||-|
|Depressed nasal bridge||-|
|Irregular femoral epiphysis||-|
|Mitral valve prolapse||-|
|obsolete Flat midface||-|
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.
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.