Steel syndrome

Definition:

Steel syndrome is an autosomal recessive disease characterized by short stature, dysmorphic features, hip dislocations, radial head dislocations, carpal coalition, cavus feet, and scoliosis. It has been reported mutations in COL27A1 are responsible for Steel syndrome. COL27A1 encodes the pro-alpha chain of fibrillar collagen type XXVII. It has been suggested that COL27A1 may play an important role during cartilage mineralization.

References:

[1]. Claudia Gonzaga-Jauregui, et al. Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population. Eur J Hum Genet. 2015 Mar;23(3):342-6. [Content Brief]

[2]. John M Flynn, et al. Steel syndrome: dislocated hips and radial heads, carpal coalition, scoliosis, short stature, and characteristic facial features. J Pediatr Orthop. 2010 Apr-May;30(3):282-8. [Content Brief]

[3]. Nesrin Gariballa, et al. A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss. Am J Med Genet A. 2017 May;173(5):1257-1263. [Content Brief]

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