[MIM 615 155]

Very rare: < 1.106. Recessive autosomal transmission of mutations in the COL27A1 gene (9q32).

Form of osteochondrodysplasia that combines to varying degrees:

-        short stature

-        congenital dislocation of the radial head and the hip (that is resistant to surgical treatment)

-        fusion of the carpal bones

-        scoliosis, cervical vertebral anomalies

-        hollow feet

-        characteristic facies: oval face, broad forehead, broad nasal ridge, midface hypoplasia, anteverted nostrils

Anesthetic implications:

short stature, risk of difficult intubation (rigid neck)

References : 

-         Gonzaga-Jaureguin C, Gamble CN, Yuan B, Penney S et al.
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation in the Puerto Rican population.
Eur J Hum Genet 2015; 23: 342-6

Updated: June 2017