Blue rubber bleb nevus syndrome is also known as Bean syndrome. It is a rare syndrome of venous malformations that arise in the skin and gastrointestinal tract.Risk factors.Since the disease is a genetic disorder, there are no risk factors associated with this disease. However, consanguineous marriage is a leading cause of disease transmission.Some patients may have mutations in genetic levels, which can affect  Read More

Kabuki syndrome is a rare, multisystem disorder characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, skeletal abnormalities, and short stature. A wide variety of additional symptoms affecting multiple different organ systems can potentially occur. The specific symptoms associated with Kabuki syndrome can vary greatly from one person to another. The exact cause  Read More

The nails, knees, elbows, and pelvis are aberrant in people with nail-patella syndrome. Even among family members, the degree of nail-patella syndrome's symptoms varies among those who are affected. Nearly all people with nail-patella syndrome have abnormal nails.Nail Patella Syndrome is typically brought on by a defect in the LMX1B gene, which is inherited from one parent. But nail-patella syndrome may not usu  Read More