[MIM 305 450]

(FGS1, Keller syndrome)

X-linked recessive transmission of a mutation of the MED12 gene (Xq13.1) very similar to Lujan-Fryns syndrome. Particular form of X-linked mental retardation

Other similar phenotypes have been described:

-        FGS1 or Opitz-Kaveggia syndrome [MIM 305 450]: mutation of the MED12 gene (Xq13.1)

-        FGS2 [MIM 300 321]: mutation of the FLNA gene (Xq28)

-        FGS3 [MIM 300 406]: mutation on Xp22.3

-        FGS4 [MIM 300 172]: mutation of the CASK gene (Xp11)

-        FGS5 [MIM 300 581]: mutation on Xq22.3

Association of:

-        global developmental delay

-        facial dysmorphism: relative macrocephaly, bulging forehead, hypertelorism, downslanting palpebral fissures, spiked hair strands on the forehead

-        anorectal malformation: imperforate anus, chronic constipation

-        cardiac malformation: VSD

-        hypotonia with joint hyperlaxity progressing to spasticity and contractures

-        partial agenesis of the corpus callosum

-        wide thumbs and halluces

-        behavioural disorders: hyperactivity with attention deficit

Anesthetic implications:

echocardiography; problems of communication

References :

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Updated: August 2020