Merck Manual

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Nail-Patella Syndrome

(Osteo-Onychodysplasia; Arthro-Onychodysplasia; Onycho-Osteodysplasia)

By

Frank Pessler

, MD, PhD, Helmholtz Centre for Infection Research

Medically Reviewed Oct 2020 | Modified Sep 2022
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Nail-patella syndrome is a rare hereditary disorder that results in abnormalities of the kidneys, bones, joints, toenails, and fingernails.

Nail-patella syndrome is caused by a mutation of a gene that plays an important role in the development of limbs and kidneys.

Commonly, people who have this syndrome are missing one or both kneecaps (patellas), have an arm bone (radius) that is dislocated at the elbow, and have an abnormally shaped pelvic bone. Their fingernails and toenails are missing or poorly developed, with pitting and ridges.

Diagnosis of Nail-Patella Syndrome

Treatment of Nail-Patella Syndrome

NOTE: This is the Consumer Version. DOCTORS: VIEW PROFESSIONAL VERSION
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