nail-patella syndrome

A syndrome characterized by nail dysplasia and absent or hypoplastic patellae that has_material_basis_in heterozygous mutation in the LMX1B gene on chromosome 9q33.3.

Signs and symptoms

• Absent distal interphalangeal creases
• Patellar hypoplasia
• Limited elbow extension
• Iliac horns
• Pes planus
• Back pain
• Keratoconus
• Nephrotic syndrome
• Short stature
• Absence of pectoralis minor muscle

Also known as: Fong disease; Turner-Kiser syndrome; hereditary onychoostedysplasia; iliac horn syndrome; nail patella syndrome