Nail-patella syndrome

Andrew Murphy and A.Prof Frank Gaillard et al.

Nail-patella syndrome (also known as Fong disease, osteo-onychodysostosis, Österreicher-Turner syndrome 10, Turner-Kieser syndrome, and Trauner-Rieger syndrome) is a rare autosomal dominant condition which results from symmetrical mesodermal and ectodermal abnormalities.

Clinically, the key feature is absent/hypoplastic nails from birth. Individuals may have flexion contractures and recurrent knee dislocations.

The underlying genetic defect is caused by loss-of-function mutations in the transcription factor LMX1B on chromosome 9 5,6.

  • renal dysfunction 5

Diagnostic radiographic findings include:

  • fragmented/absent/hypoplastic patellae (with a tendency to recurrent dislocation)
  • hypoplasia of the radial head or capitellum (leading to subluxation/dislocation dorsally)
  • bilateral posterior iliac horns ("Fong prongs") 
  • flared iliac rests with protuberant anterior iliac spines

The bilateral posterior iliac horns, due to exostoses arising from the posterior aspect of the iliac bones, are present in as many as 80% of patients; this finding is considered pathognomonic for the syndrome. The horns may be capped by an epiphysis. Other features include:

For absent patella(e), consider: 

Iliac horns were described by Edward Everett Fong (b. 1912- fl. 1964 9), an American radiologist in 1946 8.

Multidisciplinary teams are required to treat patients with Nail Patella Syndrome, these include orthopedics, pediatricians and for other complications of the conditions: nephrologists, ophthalmologists, general practitioners, dieticians and physiotherapists to name a few 12.

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Article information

rID: 1714
Section: Syndromes
Synonyms or Alternate Spellings:
  • Turner-Kieser syndrome
  • Österreicher-Turner syndrome
  • Osteo-onychodysostosis
  • Osteo-onychodysplasia
  • Fong disease
  • Fong's disease
  • Trauner-Rieger syndrome
  • Hereditary onychoosteodysplasia

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Cases and figures

  • Case 1: close up
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  • Iliac horn

Exost...
    Case 2
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  • Case 3
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  • Case 4
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  • Case 5
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  • Case 6
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  • Case 7: large tibial tuberosities
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  • Case 8: absent ossificastion center of the patella
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