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Cerebrotendinous xanthomatosis

What is Cerebrotendinous xanthomatosis?

Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.

Other condition names

  • CTX
  • Sterol 27-hydroxylase deficiency

Inheritance type

Autosomal recessive

Prevalence

  • United States: 1-9 in 100,000

Age of Onset

  • Infancy
  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.