Which are the causes of Ruvalcaba Syndrome?

Ruvalcaba Syndrome, also known as Borrone Dermato-cardio-skeletal Syndrome, is a rare genetic disorder that affects multiple systems in the body. It is characterized by a combination of physical, developmental, and intellectual abnormalities. The syndrome is named after the Mexican physician who first described it, Dr. Victor Ruvalcaba.

The primary cause of Ruvalcaba Syndrome is a mutation in the FBN2 gene. This gene provides instructions for making a protein called fibrillin-2, which is essential for the formation of connective tissues in the body. Connective tissues provide strength and support to various structures, including the skin, bones, blood vessels, and organs. When the FBN2 gene is mutated, it disrupts the normal production or function of fibrillin-2, leading to the characteristic features of Ruvalcaba Syndrome.

Ruvalcaba Syndrome is inherited in an autosomal dominant manner. This means that a person only needs to inherit one copy of the mutated FBN2 gene from either parent to develop the syndrome. In some cases, the mutation occurs spontaneously, without any family history of the disorder.

The signs and symptoms of Ruvalcaba Syndrome can vary widely among affected individuals, even within the same family. Some of the most common features include:

• Facial abnormalities: Individuals with Ruvalcaba Syndrome may have a distinctive facial appearance, including a broad forehead, widely spaced eyes, a flat nasal bridge, and a small chin.


• Skeletal abnormalities: This syndrome is associated with skeletal abnormalities such as scoliosis (curvature of the spine), joint hypermobility, and short stature.


• Cardiac abnormalities: Some individuals may have heart defects, including abnormalities of the heart valves or the walls separating the chambers of the heart.


• Intellectual and developmental delays: Many individuals with Ruvalcaba Syndrome have intellectual disability and may experience delays in reaching developmental milestones such as walking and talking.


• Skin abnormalities: Skin findings can include hyperelasticity, easy bruising, and stretch marks.

Due to the multisystem nature of Ruvalcaba Syndrome, affected individuals often require a multidisciplinary approach to management and treatment. This may involve specialists from various fields, including genetics, cardiology, orthopedics, and developmental pediatrics.

While there is currently no cure for Ruvalcaba Syndrome, treatment focuses on managing the individual symptoms and providing support to improve quality of life. This may include physical therapy to address skeletal abnormalities, educational interventions for intellectual disability, and regular monitoring of cardiac function.

In conclusion, Ruvalcaba Syndrome is a rare genetic disorder caused by a mutation in the FBN2 gene. It affects multiple systems in the body, leading to a range of physical, developmental, and intellectual abnormalities. Early diagnosis and appropriate management can help individuals with Ruvalcaba Syndrome lead fulfilling lives.