Nail-patella syndrome
A rare genetic condition causing nail, bone, and kidney problems is nail-patella syndrome.
Symptoms
Everyone with this syndrome will have abnormal cells; They may also experience issues with their kneecaps (patellae), elbows, and pelvis.
These problems can be evident from birth, but they will be more apparent later.
Nails
- Missing
- Underdeveloped
- Discolored
- Split, ridged, or pitted
Toenails usually are less affected by the condition.
Kneecaps
The kneecaps might be small, easily dislocated, irregularly shaped, and painful.
Arms and elbows
Some people need help to extend their arms up. The elbows may angle outwards, and dislocations can occur.
Pelvis
Bony growths on the pelvic bone are common (visible on X-rays)
Other symptoms
People with nail-patella syndrome may also have the following:
- Pressure in the eyes (glaucoma)
- Numbness or a burning sensation in the hands and feet
- Insufficient blood circulation in the hands and feet
- Constipation or irritable bowel syndrome (IBS)
- Thin bones (osteoporosis), particularly in the hips
Causes
A fault usually causes nail patella syndrome in a gene called LMX1B inherited from one parent.
Treatments for nail-patella syndrome
There’s no cure for nail-patella syndrome, but remedies are available to help manage the symptoms.
- Eye drops
- Painkillers
- Physiotherapy
- Dialysis
- Kidney transplant
- Osteoporosis
Genetic testing
The doctor uses the blood test; to look for the faulty gene and confirm the diagnosis.
If you undergo nail-patella syndrome, a 50% chance is there that your child will be born with the disease.
The doctor can explain the risks and what options you can employ.
They may include:
- Having screening to see if your baby will be born with nail-patella syndrome
- Attempting pre-implantation genetic diagnosis (PGD)
Reviewed by – Dr. Priyanka, MBBS MD Microbiology
Page last reviewed: 04 October 2022