Very rare. Cases are sporadic: the cause is supposed to be either teratogenic or local (persistence of the

buccopharyngeal membrane, amniotic bands ?). It is part of a spectrum of syndromes grouped together under the name of oromandibular syndromes with short limbs, classified into 6 categories the specificity of which is not obvious. The oromandibular syndromes include Moebius syndrome (the most frequent), hypoglossia-hypodactyly combination, Hanhart syndrome, glossopalatine ankylosis and the association of limb shortening and spleno-gonadal fusion.

Patients present with varying degrees of anomalies of the tongue (aglossia, hypoglossia, ankyloglossia) and shortening of variable importance of the extremities (syndactyly, brachydactyly, bifid or triphalangeal thumb, abnormalities of the feet...)

Other possibly associated features: microstomia, micrognathia, retrognathia, broad nose with short philtrum,  cleft lip or cleft palate, hypodontia, large ears.

Different types:

-        type I: without glossopalatine ankylosis

-        type II: with superior ankyloglossia (see this term)

Anesthetic implications: 

difficult mask ventilation and intubation; a small mouth opening makes the use of a videolaryngoscope difficult .

References : 

-         Jung O, Smeets R, Hanken H, Friedrich RE et al.
A patient with Charlie M syndrome: differential diagnosis of oromandibular limb hypogenesis syndromes.
Biomed Par med Fac univ Palacky Olomouc Czech Repub 2016; 160: 310-5

Updated: October 2019