[MIM 269 860]

(short ribs-polydactyly type IV syndrome)

Very rare. Autosomal recessive transmission of a mutation of the IFT122 gene (3q21).

This ciliopathy belongs to the group of thoracic dysplasias with short ribs with or without polydactyly encompassing the Jeune, Ellis-van Creveld and Mainzer-Saldino syndromes(see these terms).

Clinical picture:

-        narrow chest with short ribs

-        short tubular bones (fibula, sometimes absence of tibia)

-        trident-shaped acetabulum

-        arched upper-limb bones

 Anesthetic implications: 

restrictive respiratory syndrome

References : 

-        Silveira KC, Moreno CA, Cavalcanti DP
Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122.
Am J Med Genet 2017;173: 1186-9.

Updated: June 2017