Nail-patella syndrome is an autosomal dominant condition caracterized by brittle or ridged nails, small nail plates or dystrophic with triangular rather than half-moon shaped lunula of thumbs or indices and absent patellae (kneecaps). The Nail Patella Syndrome is estimated to occur in newborns, during early childhood or later in life and its incidence is approximately one in 50,000 and occurs throughout the world in all ethnic groups.
In some individuals, the Nail Patella Syndrome presents abnormally increased fluid pressure of the eyes as a result of the progressive blockage of the outflow of fluid from the front chamber of them and resulting in glaucoma. Nail Patella Syndrome is also known as NPS, Fong Disease, Onychoosteodysplasia, Turner-Kieser Syndrome, Iliac Horn Syndrome, Hereditary Onychoosteodysplasia or simply HOOD.
Symptoms of Nail Patella Syndrome
The patellae may be hypoplastic or absent and it may be frequently dislocated. Limitation of elbow motion or subluxation of the radius often occurs as a result of hypoplasia of the radial head. Other joints tend to be hyper flexible.
Patients with nail-patella syndrome may not be able to fully straighten their arms at the elbow.
Loss of peripheral (side) vision
Blind spots
Need for frequent changes in glasses
Difficulty in adjusting to a dark room.
Treatment of Nail Patella Syndrome
The treatment for nps and glaucoma depends upon the nature and severity of each case. Since there is not a treatment for Nail Patella Syndrome the management of the disorder has to be focused to prevent and treat complications, especially renal failure. The Treatment of Nail Patella Syndrome are includes the following
Associated abnormalities require appropriate care from specialists.
Although more than 90% of patients with NPS have patellar involvement, most patients are asymptomatic and rarely require surgical treatment.
Congenital permanent dislocation of the patella (CPDP) should be treated with surgical procedures. Preferably, orthopedic correction should be performed when the patient is aged approximately 2-3 years to prevent secondary deformities and growth-related disability.
Multi-system genetic disorder its treatment depends upon the nature, condition and severity of each individual and is not possible to cure glaucoma but it can be controlled with pills, eye drops, laser procedures or surgical operations.
Severe kidney disease is treated with dialysis or a kidney transplant. Patients receiving kidney transplant do not develop nail-patella type renal complications in their new kidney.
