Nail-Patella Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A rare autosomal dominant syndrome caused by mutations in the LMX1B gene. It is characterized by fingernail deformities, absence or hypoplasia of the patellae, iliac horns, deformities of the radial heads, nephropathy, and glaucoma.

**Synonyms:** - Hereditary Osteo-Onychodysplasia