Nail-patella syndrome (Hereditary osteo-onychodysplasia)

Page most recently updated 7 September 2026

This page focuses on the reported psychiatric associations, which may be the initial presenting manifestation, and on other clinical features that may assist the psychiatrist or primary care physician in identifying the underlying diagnosis, considered through the lenses of the diagnostic lenses framework.

Nail-patella syndrome (hereditary osteo-onychodysplasia) is an autosomal dominant genetic condition. It can occur as an inherited or de novo genetic condition, so absence of a relevant family history does not exclude the diagnosis. A distinctive presentation may include the combination of nail abnormalities, patellar hypoplasia, and iliac horns.

It can present with psychiatric features such as ADHD, depressive symptoms, and, less commonly, other mood or behavioural difficulties. Psychosis has also been reported, although this is not established as a characteristic feature. Neuropsychiatric manifestations can occur in adulthood.

From a morphologic lens perspective, other features include (but are not limited to):

  • Broad philtrum

  • Small nails

Other characteristic features include nail abnormalities such as splitting, most commonly of the thumbnails; longitudinal ridging; and nail discoloration. Limited elbow movement and recurrent patellar instability may also occur. Renal involvement may cause proteinuria, haematuria, or progressive kidney disease, while ocular complications include glaucoma and ocular hypertension. Neurological manifestations are less common but may include reduced sensitivity to pain and temperature, paraesthesia, and seizures.

Early diagnosis is important to identify and manage potentially significant musculoskeletal, renal, ocular, and neurological complications; to detect kidney disease and glaucoma early; and to allow appropriate orthopaedic, ophthalmological, renal, and psychiatric management and surveillance.

Selected references and further reading — Morphologic lens

Jones KL, Jones MC, del Campo M. Smith's recognizable patterns of human malformation. 8th ed. Philadelphia: Elsevier; 2021.

Reardon W. The bedside dysmorphologist: a guide to identifying and assessing congenital malformations. 2nd ed. Oxford: Oxford University Press; 2016.

Allanson JE, Biesecker LG, Carey JC, Hennekam RCM. Elements of morphology: introduction. Am J Med Genet A. 2009;149A(1):2-5. doi:10.1002/ajmg.a.32601.

Hennekam RCM, Biesecker LG, Allanson JE, Hall JG, Opitz JM, Temple IK, Carey JC; Elements of Morphology Consortium. Elements of morphology: general terms for congenital anomalies. Am J Med Genet A. 2013;161A(11):2726-2733. doi:10.1002/ajmg.a.36249.