Nail-patella syndrome

Nail-patella syndrome is an autosomal dominant condition affecting 1 in 50 000. 

It is classically described as a tetrad of: 
  • Dysplasia of nails 
  • Small or absent patellae 
  • Elbow dysplasia 
  • Iliac horns – occur in 70%; pathognomonic. 

Other features associated with nail-patella syndrome are: 
  • Renal abnormalities (25%) 
  • Sometimes glaucoma in adulthood 


References:
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Sarah Hudson

Secret collector of interesting anonymised ECGs. Fan of the Bath Photomarathon. Lover of cream teas.

Secret collector of interesting anonymised ECGs. Fan of the Bath Photomarathon. Lover of cream teas. [Sarah Hudson] (Your Picture)