Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome

What is Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome?

Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked.

Other condition names

  • Dykes-Marks-Harper syndrome

Inheritance type

Autosomal recessive, X-linked recessive

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
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