Opitz-Kaveggia syndrome
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(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