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Last updated: 28 June 2024 Print

Opitz-Kaveggia Syndrome (OKS)

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FG SyndromeOpitz-Kaveggia Syndrome (OKS)
  • Description

    • An X-linked recessive mental retardation syndrome.
    • Characterized by:
      • Dysmorphic features: relative macrocephaly, hypertelorism, downslanted palpebral fissures, prominent forehead with frontal hair upsweep, broad thumbs, and halluces.
      • Hypotonia, constipation, partial agenesis of the corpus callosum.
      • Some patients exhibit sensorineural hearing loss, joint laxity evolving into joint contractures.
      • Hyperactivity and talkativeness are common.

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