nail-patella syndrome (onychoosteodysplasia)

Introduction

A congenital skeletal disorder.

Pathology

• hypoplasia of the patella
• hypoplasia of the iliac horns
• dysplasia of fingernails & toenails
• thickening of the glomerular lamina densa
• deformity of the lower end of the femur

Genetics

• autosomal dominant
• associated with defects in LMX1B

More general terms

• genetic syndrome (multisystem disorder)
• developmental disorder syndrome (multisystem disorder)
• genetic disease of bone/skeletal system

Database

• OMIM: https://mirror.omim.org/entry/161200