Nail-Patella Syndrome

Excerpt

Nail-patella syndrome (NPS), also known as Fong disease or hereditary onycho-osteodysplasia, is a rare multisystemic disease with a classic clinical tetrad of fingernail dysplasia, hypoplasia or absence of the patella, presence of iliac horns, and elbow deformities, although ocular, renal, and neurological involvement exists as well. Dr. E. M. Little first described the phenotype and hereditary nature of what would later become NPS in 1897. However, it was not until the mid 20th century that the autosomal dominant inheritance pattern, as well as the condition's genetic penetration, was discovered. NPS can be clinically diagnosed with the characteristic physical exam and radiological imaging findings, although genetic testing and even renal biopsy assist in diagnosis confirmation. Although the prognosis for this condition is good, serious complications exist, and as a result, management recommendations have been proposed.