[MIM 300 895]

(BMRS MKB type, X-linked Ohdo syndrome)

Prevalence < 1/106.  X-linked transmission of a mutation of gene MED12 (Xq13.1).

Association of:

-        blepharophimosis, ptosis, hypertelorism

-        facial dysmorphy: triangular facies, maxillary hypoplasia, micrognathia, microstomia, tiny ears, thick nostrils

-        dental anomalies

-        hypotonia, feeding problems

-        cafe-au-lait spots

Anesthetic implications: 

risk of difficult intubation/ventilation by mask; management of a polyhandicapped child

References : 

Updated: October 2016