What is Nail-patella syndrome

Nail-patella syndrome, also known as hereditary onycho-osteodysplasia, is a rare genetic disorder that affects multiple parts of the body. It is characterized by abnormalities in the nails, knees, elbows, and pelvis.

The most prominent feature of Nail-patella syndrome is the presence of nail and skeletal abnormalities. Individuals with this condition often have underdeveloped or absent nails, which can be misshapen or ridged. Additionally, they may experience skeletal abnormalities such as malformed kneecaps, elbow deformities, and hip bone irregularities.

Aside from the physical manifestations, Nail-patella syndrome can also affect other body systems. It may lead to kidney problems, including abnormal function or the presence of blood or protein in the urine. Eye abnormalities, such as glaucoma or cataracts, can also occur in some cases.

Although Nail-patella syndrome is a genetic disorder, its inheritance pattern can vary. It is typically inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the condition on to their children.

Management of Nail-patella syndrome involves a multidisciplinary approach, addressing the specific symptoms and complications that arise. Regular monitoring and treatment of associated conditions, such as kidney or eye problems, are essential for optimal care.