[MIM 612 313]

(2q32-q33 deletion)

Not to be confused with Glass-Chapman-Hockley syndrome, which is a form of craniosynostosis also called Muenke syndrome (see this term).

Prevalence < 1.106. Sporadic mutation or autosomal dominant transmission of an interstitial deletion of the SATB2 gene (2q32-33).

Association of:

-          pre - and postnatal growth delay 

-             mental retardation of varying importance, often absent speech

-            facial dysmorphism: micrognathia, cleft palate, downslanting palpebral fissures, overlapping teeth

-             convulsions

-        hypermobility of the joints

-       arachnodactyly

-       jovial behavior but risk of sudden crisis of anger.

Anesthetic implications: 

risk of difficult facemask ventilation or intubation

References : 

Updated June 2019