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nail-patella syndrome (onychoosteodysplasia)

A congenital skeletal disorder. Pathology: 1) hypoplasia of the patella 2) hypoplasia of the iliac horns 3) dysplasia of fingernails & toenails 4) thickening of the glomerular lamina densa 5) deformity of the lower end of the femur Genetics: - autosomal dominant - associated with defects in LMX1B

General

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

Database Correlations

OMIM 161200

References

  1. OMIM :accession 161200
  2. Stedman's Medical Dictionary 27th ed, Williams & Wilkins, Baltimore, 1999