Nail-Patella Syndrome Health Article

When to call the doctor

The doctor should be called if a parent detects the symptoms of nail-patella syndrome in a child previously not diagnosed with the syndrome.

Diagnosis

Genetic testing for nail-patella syndrome is usually available only at research institutions that are working to further characterize this disorder. However, genetic testing cannot predict which signs of the disease will develop nor predict the severity of disease symptoms.

Diagnosis of this disease is most often made on visual medical symptoms such as the characteristic abnormalities of the fingernails and kneecaps. Diagnosis is confirmed by x-ray images of the affected bones and, when indicated, kidney biopsy. The bony pelvic spurs found in children with nail-patella syndrome are not associated with any other disease.

Treatment

Treatment for children affected by nail-patella syndrome depends on the child's specific symptoms.

A wheelchair may be required if walking becomes painful due to bone, tendon, ligament, or muscle defects. Orthopedic surgery may be necessary for congenital clubfoot deformity. Manipulation or surgery may be required to correct hip dislocation. Cataracts are also surgically treated. Medical treatment at early signs of glaucoma prevents progression of the disease to blindness.

Controlling blood pressure may slow the rate of deterioration of kidney function. Severe kidney disease can be treated with dialysis or a kidney transplant. Children receiving kidney transplants do not develop nail-patella-type renal complications in their new kidney.

Because many possible manifestations of nail-patella syndrome exist, parents are advised to obtain extra medical care for their child with nail-patella syndrome, including regular urinalysis to monitor blood and protein levels to detect kidney disease as well as eye exams to detect glaucoma. Children with nail-patella syndrome should be periodically screened for scoliosis and lordosis.

Prognosis

Symptoms vary from person to person and for one person through time. The long-term prognosis is extremely variable. One person may exhibit mild symptoms, while another person may become wheelchair-bound or require a kidney transplant.

Survival among patients with nail-patella syndrome is not decreased unless they exhibit renal complications. It is estimated that 8 percent of individuals with nail-patella syndrome who come to medical attention eventually die of kidney disease.

Prevention

Genetic counseling can be offered to persons who have the disease. Parents with this disease have a 50 percent chance of passing it to each of their children.

Parental concerns

Families may wish to seek counseling regarding the effects on relationships within the family after the birth of a child with nail-patella syndrome, for many people respond with guilt, fear, or blame when a genetic disorder is manifested within a family. Support groups are often good sources of information about nail-patella syndrome and can offer emotional and psychological support.

BOOKS

Nail Patella Syndrome: A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References. San Diego, CA: Icon Health Publications, 2004.

ORGANIZATIONS

Nail Patella Syndrome Networking/Support Group. 67 Woodlake Dr., Holland, PA 18966. Web site: <www.hometown.aol.com/pacali/npspage.html>.

National Organization for Rare Disorders Inc. 55 Kenosia >Ave., PO Box 1968, Danbury, CT 06813–1968. Web site: <www.rarediseases.org>.

Judith L. Sims, MS John T. Lohr, PhD Judy C. Hawkins, MS