Which are the symptoms 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 variety of symptoms that can vary in severity from person to person. The syndrome is caused by mutations in the FBN2 gene, which is responsible for producing a protein called fibrillin-2.

Skeletal abnormalities: One of the key features of Ruvalcaba Syndrome is the presence of skeletal abnormalities. These can include short stature, scoliosis (abnormal curvature of the spine), joint hypermobility, and abnormalities of the fingers and toes. Some individuals may also have a cleft palate or other facial abnormalities.

Cardiovascular issues: Another important aspect of Ruvalcaba Syndrome is the presence of cardiovascular problems. These can include heart defects such as atrial septal defects (holes in the wall separating the heart chambers) or mitral valve prolapse (a condition where the valve between the left atrium and left ventricle doesn't close properly).

Dermatological manifestations: Individuals with Ruvalcaba Syndrome may exhibit certain dermatological features. These can include thickened, leathery skin, particularly on the palms of the hands and soles of the feet. Some individuals may also have excessive body hair growth (hirsutism).

Intellectual disability: In some cases, individuals with Ruvalcaba Syndrome may have intellectual disability or developmental delays. The severity of these cognitive impairments can vary widely.

Other features: Additional symptoms that may be present in individuals with Ruvalcaba Syndrome include hearing loss, dental abnormalities, and gastrointestinal issues such as constipation or gastroesophageal reflux.

It is important to note that the symptoms of Ruvalcaba Syndrome can vary greatly between individuals. Some individuals may have mild manifestations of the syndrome and lead relatively normal lives, while others may have more severe symptoms that significantly impact their quality of life. Due to the rarity of the syndrome, it is often difficult to diagnose and manage effectively.

If you suspect that you or a loved one may have Ruvalcaba Syndrome, it is important to consult with a healthcare professional who can conduct a thorough evaluation and provide appropriate guidance and support.