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 other medical conditions, such as scoliosis, hernias, and hearing loss.

The most common symptoms of Weill-Marchesani Syndrome (WMS) include:

-Short stature
-Thickened skin on the hands and feet
-Highly curved fingers and toes
-Narrow chest
-Highly curved spine
-Narrow face
-Highly curved ribs
-Highly curved jaw
-Highly curved eye sockets
-Cataracts
-Glaucoma
-Heart defects
-Kidney problems
-Hearing loss
-Intellectual disability

Weill Marchesani Syndrome (WMS) is a rare genetic 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 WMS.

The treatments for Weill Marchesani Syndrome (WMS) vary depending on the individual and the severity of the condition. Generally, treatment focuses on managing the symptoms and preventing complications. This may include:

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

• Physical therapy: To help improve posture, balance, and coordination.

• Surgery: To correct any skeletal deformities or joint contractures.

• Medication: To reduce inflammation and pain.

• Diet: Eating a healthy, balanced diet to maintain a healthy weight.

• Exercise: Regular exercise to improve strength and flexibility.

• Counseling: To help manage stress and anxiety.

The primary risk factor for Weill Marchesani Syndrome is having a family history of the disorder. Other risk factors include being of Ashkenazi Jewish descent, being female, and having a history of consanguinity (marriage between close relatives).

There is no cure for Weill Marchesani Syndrome, but medications can be used to manage the symptoms. These medications may include corticosteroids, nonsteroidal anti-inflammatory drugs, and diuretics. Physical therapy and occupational therapy may also be recommended to help improve joint mobility and muscle strength. Surgery may be recommended in some cases to correct joint deformities.