[MIM 610 536]

(Mandibulofacial microcephaly dysostosis, MFDM syndrome)

Rare. Mutations in the EFTUD2 gene.

Association of:

-        mandibulofacial dysostosis: malar and mandibular hypoplasia, malformation of the ears (hearing loss); choanal atresia, facial asymmetry,  down or backslanting palpebral fissures

-        cleft palate

-        microcephaly present at birth

-        growth and mental retardation

But also:

-        esophageal atresia (40 %)

-        anomalies of the thumbs (25 %)

-        cardiac malformations (40 %)

Anesthetic implications:

preoperative echocardiography, check for choanal atresia, cleft palate, microcephaly; risk of difficult mask ventilation and intubation ; esophageal atresia (see this topic)

References :

-        Crétolle C, Amiel J.
Syndromes avec anomalie digestive,
In  Progrès en Pédiatrie : syndromes dysmorphiques, édité par  Lacombe D et Philip N, 2013, p 151-63

Updated: August 2019