Nail Patella Syndrome – Explained by Skin care rejuvenation near me raleigh nc

 

Nail-Patella Syndrome, also known as hereditary osteo-onychodysplasia, is a rare genetic disorder that causes abnormalities of bone, joints, fingernails and kidneys. Nail patella syndrome is commonly characterized by absent or under-developed kneecaps and thumbnails. If you are looking forward to Skin care rejuvenation near me raleigh nc

It is transmitted as a simple autosomal dominant characteristic in the ABO blood group (Autosomal dominant means that you only have to inherit one copy of the gene to get it). The hallmark features of this syndrome are poorly developed fingernails, toenails, and patellae (kneecaps).

Other common abnormalities include elbow deformities, abnormally shaped pelvis bone (hip bone), and kidney (renal) disease. The gene that causes nail-patella syndrome is dominant. Commonly, people who have this syndrome have one or both kneecaps (patellas) missing, one of the arm bones (the radius) dislocated at the elbow, and the pelvic bone abnormally shaped. Approximately 30 to 40 percent of individuals with nail patella syndrome may also develop abnormalities in kidney function (nephropathy) that may be apparent during childhood or later in life.

Nail-patella Syndrome is inherited as an autosomal dominant trait. People with nail-patella syndrome may display only a few or many of the recognized signs of this disease. Symptoms vary widely from person to person. The treatment for nps and glaucoma depends upon the nature and severity of each case. There is no effective treatment for this syndrome. Controlling blood pressure may slow the rate of deterioration of kidney function.

Causes of Nail patella syndrome

The common causes of Nail patella syndrome include the following:

It is caused by mutations in a gene known as LIM homeobox transcription factor 1-beta, located on the long arm of chromosome 9.

Symptoms of Nail patella syndrome

Some symptoms related to Nail patella syndrome are as follows:

Loss of peripheral (side) vision.

Blurred vision.

Abnormalities of the cornea.

Difficulty in adjusting to a dark room.

Severe headaches, nausea and eye pain in rare cases.

Cataracts and astigmatism.

Treatment of Nail patella syndrome

Here is list of the methods for treating Nail patella syndrome:

Eye drops, pills, laser procedures, and surgical operations are used to prevent or slow further damage from occurring.

Children with nail-patella syndrome should be screened for scoliosis.

Orthopedic surgery may be necessary for congenital clubfoot deformity.

Cataracts