Nail-patella syndrome, also known as hereditary onycho-osteodysplasia or Fong disease, is a rare genetic disorder that affects multiple parts of the body. This condition is characterized by abnormalities in the nails, kneecaps, elbows, and pelvis.
Individuals with nail-patella syndrome often exhibit hypoplastic or absent nails, meaning their nails may be underdeveloped or completely missing. The kneecaps can also be affected, leading to abnormalities in their shape and size. This can result in knee pain, instability, and limited range of motion.
In addition to nail and kneecap abnormalities, individuals with nail-patella syndrome may experience elbow deformities. These can manifest as limited extension or flexion of the elbows, making it difficult to fully straighten or bend the arms. The pelvis may also be affected, leading to hip pain and abnormalities in the hip joint.
Aside from the musculoskeletal features, nail-patella syndrome can also involve renal abnormalities. These may include kidney malformations or renal insufficiency, which can affect kidney function. Additionally, some individuals may experience ocular abnormalities such as glaucoma or cataracts.
Diagnosis of nail-patella syndrome is typically based on clinical evaluation, family history, and genetic testing. While there is no cure for this condition, treatment focuses on managing the symptoms and associated complications. This may involve pain management, physical therapy to improve joint mobility, and regular monitoring of kidney function.
It is important for individuals with nail-patella syndrome to receive regular medical care and genetic counseling to understand the inheritance pattern and potential risks for future generations.