Symptoms or characteristics of nail patella syndrome?

Nail-patella syndrome is a rare genetic disorder that affects the development of the nails, bones, and kidneys. It is caused by mutations in the LMX1B gene, which is involved in the development of these tissues.

Symptoms and characteristics of nail-patella syndrome can include:

* Nail abnormalities: The nails may be absent, deformed, or have a triangular shape. They may also be brittle and prone to splitting.

* Knee problems: The kneecaps may be dislocated or absent, and the legs may be bowed or knock-kneed.

* Elbow problems: The elbows may be enlarged and have limited range of motion.

* Kidney problems: Kidney problems can range from mild to severe and may include kidney stones, kidney failure, and end-stage renal disease.

* Other features: Other features of nail-patella syndrome can include short stature, hearing loss, vision problems, and dental abnormalities.

The severity of nail-patella syndrome can vary from person to person. Some people may only have mild symptoms, while others may have more severe problems. There is no cure for nail-patella syndrome, but treatment can help to manage the symptoms and improve quality of life.

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