IllnessNail-patella syndrome

NGS +

Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows and pelvis. These features vary in severity among patients, even within the same family. Nails may be absent, underdeveloped or pitted. Fingernails are usually more affected than toenails. Patellas are small or absent, and dislocation is common. In addition to cubitus valgus position, the elbows sometimes have abnormal webs. Patients also frequently have so-called pelvic horns. In addition, glaucoma may develop at young age or renal disease, which may progress to renal failure in 15% of cases. Mutations in the MLMX1B gene cause nail-patella syndrome according to the autosomal dominant inheritance pattern. Since mutations are only detected in up to 95% of cases by sequencing and/or insertion/deletion analysis, the clinical diagnosis is not excluded with certainty based on a negative DNA test result.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1132/

• Alias: Fong disease
• Alias: Onychoosteodysplasia
• Alias: Turner-Kieser syndrome