[MIM 300 676, 309 520]

X-linked recessive transmission of a mutation of the MED12 gene (Xq13.1). Particular form of X-linked mental retardation associated with a marfanoid habitus status. A few cases caused by the mutation of the UPF3B (Xq25-q26) or ZDHHC9 (Xq26.1) gene have been described, as well as a few cases in girls.

Association of:

-        global developmental retardation

-        tall stature with marfanoid appearance that becomes more apparent at the time of puberty

-        facial dysmorphism: macrocephaly, bossing forehead, elongated facies, high arched palate, maxillary hypoplasia and small mandible, nasal voice, short and deep philtrum, low set ears, double row of teeth

-        cardiac malformation: mitral regurgitation, ASD, VSD, dilated ascending aorta

-        pectus excavatum or carinatum

-        joint hyperlaxity evolving later to spasticity and contractures

-        larger than normal testicles

-        agenesis of the corpus callosum

-        behavioural disorders: autistic disorders, hyperactivity with attention deficit, aggressivity.

Anesthetic implications:

cardiac and aortic echography; communication difficulties; risk of difficult intubation

References : 

-        Faivre L, Boileau C, Jondeau G.

            Syndromes marfanoïdes

            In Syndromes dysmorphiques, Lacombe D, Philip N, Doin 2013,  pp. 106-7

-        Lujan-Fryns syndrome. OrphanAnesthesia

Updated: August 2020