Nail-patella syndrome. This entity, also known as hereditary osteo-onychodysplasia, is a genetic disease linked to a mutation in the gene encoding transcription factor LMX1B, mapped on the long arm of chromosome 9 (9q34). The manifestations include fingernail dysplasia, absent or hypoplastic patellae, the presence of posterior conical iliac horns, and abnormalities of the radial heads. Patients are also at risk for kidney disease and glaucoma.
Peutz-Jeghers syndrome. Scattered dark brown macules on the lips and buccal mucosa of a child with Peutz-Jeghers syndrome. The pigmented macules on the lips may fade with time, but the intraoral pigmentation persists for life.