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Genetic and Rare Diseases Information Center (GARD)

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Christianson syndrome

Other Names for this Disease
  • Angelman-like syndrome x-linked
  • Mental retardation microcephaly epilepsy and ataxia syndrome
  • Mental retardation x-linked syndromic Christianson type
  • MRXS Christianson
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Your Question

How many people have been diagnosed with Christianson syndrome?

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What is Christianson syndrome?

Christianson syndrome is an X-linked mental retardation syndrome associated with microcephaly, seizures, ataxia, and absent speech.[1][2] Many individuals with this condition have a happy demeanor with frequent smiling and unprovoked laughter, similar to those with Angelman syndrome.[1] Christianson syndrome is caused by mutations in the SLC9A6 gene, which is located within the q24-q27 interval of the X chromosome.[1][2000] There appears to be a range of phenotypes in carrier females, from mental retardation to absence of symptoms.[1][2]
Last updated: 1/6/2010

How many people have been diagnosed with Christianson syndrome?

In 1999, Christianson et al. described a 5-generation South African family with X-linked mental retardation, comprising 16 affected males and 10 carrier females. In 2008 Gilfillan et al. reported 3 additional families with the disorder: a Norwegian family with 3 affected males; a Swedish family with 1 affected son; and a family from the United Kingdom with 3 affected boys.[1]
Last updated: 1/6/2010