Macrocephaly-intellectual deficit-autism, syndrome

[MIM 605 309]

Rare: < 1.106. Autosomal dominant transmission of a mutation of the PTEN gene (10q23.31).


Association of:

-          macrocephaly (+ 2.5 to + 8 SD)

-          facial dysmorphisma: broad forehead (prominent frontal bossing), hypertelorism, midface hypoplasia (flat facies), narrow biparietal diameter, long philtrum

-         delay in psychomotor development leading to autistic behavior or mental retardation

-          primary immunodeficiency (B or T lymphocytes): risk of opportunistic infections, increased tumoral risk.


Another mutation of the same gene causes Cowden syndrome (see this term)

Anesthetic Implications:

risk of difficult ventilation by mask; behavioral disorder, immunodeficiency.


References :


Updated: April 2019