Buttiens-Fryns syndrome

[MIM 246 560]

Form of SHSF (acronym for Split Hand Split Feet) malformation with micrognathia. Autosomal dominant transmission of 10q24 microduplication.


Association of:

-        severe shortening of the four distal extremities of the limbs (oligodactyly),

-        micrognathia,.

-        microstomia with or without cleft palate


Anesthetic implications: 

difficult intubation, difficult peripheral venous access


References:


Updated: October 2018