Weill-Marchesani syndrome (WMS) is a rare genetic disorder that affects the connective tissue in the body. It is characterized by short stature, joint stiffness, and abnormalities of the eyes, heart, and skeleton. It is caused by mutations in the FBN1 gene, which is responsible for producing the protein fibrillin-1. People with WMS may also have vision problems, hearing loss, and learning disabilities.

The symptoms of Weill-Marchesani syndrome vary from person to person, but may include:

-Short stature
-Thickened skin on the hands and feet
-Joint stiffness
-Highly curved fingers and toes
-Narrow chest
-Heart defects
-Eye abnormalities, such as nearsightedness, farsightedness, astigmatism, and cataracts
-Intellectual disability
-Hearing loss
-Kidney abnormalities
-Abnormalities of the reproductive system

Weill-Marchesani syndrome is an inherited disorder caused by mutations in the FBN1 gene. This gene provides instructions for making a protein called fibrillin-1, which is found in connective tissue throughout the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, and blood vessels. Mutations in the FBN1 gene lead to the production of an abnormal form of fibrillin-1, which disrupts the structure and function of connective tissue. This disruption is responsible for the signs and symptoms of Weill-Marchesani syndrome.

The treatments for Weill-Marchesani syndrome vary depending on the individual and the severity of the condition. Treatment may include:

• Eye care: Regular eye exams and corrective lenses to improve vision.

• Surgery: Surgery may be necessary to correct any eye abnormalities or to repair any damage to the heart or other organs.

• Medication: Medications may be prescribed to help manage symptoms such as high blood pressure or heart problems.

• Physical therapy: Physical therapy may be recommended to help improve strength and flexibility.

• Diet and nutrition: Eating a healthy diet and getting adequate nutrition can help improve overall health.

• Counseling: Counseling may be recommended to help manage stress and anxiety.

The primary risk factor for Weill-Marchesani syndrome is a family history of the disorder. Other risk factors include being of Ashkenazi Jewish descent, having a parent with the disorder, and having a genetic mutation in the FBN1 gene.

At this time, there is no cure for Weill-Marchesani syndrome. However, medications can be used to help manage the symptoms. These medications may include beta-blockers to help control high blood pressure, diuretics to reduce fluid retention, and ACE inhibitors to reduce the risk of kidney damage. Additionally, physical therapy and occupational therapy can help improve joint flexibility and strength.