Autosomal dominant
Caused by changes in one copy of LMX1B, a gene that guides development of the back of the limbs, the kidney filters and the eye. Most people inherit it from an affected parent; the rest arise de novo.
Signs and symptoms
Small, split or absent nails, especially on the thumbs, and small or absent kneecaps are typical. Elbow differences that limit straightening, and bony horns on the pelvis seen on X-ray, are common. Some people develop protein in the urine and, less often, kidney failure; glaucoma is more common than in the general population.
What a diagnosis changes
Regular urine checks for protein, blood pressure monitoring and eye checks for glaucoma allow early treatment. Orthopaedic and physiotherapy care address knee and elbow problems. Genetic counselling explains the 1 in 2 chance of passing the condition to each child.
Genes analysed
Also known as
arthro-onychodysplasia; Fong disease; hereditary Osteo-onychodysplasia; NPS; NPS 1; NPS1; onychoosteodysplasia; osteo-onychodysplasia; Turner-Kieser syndrome
