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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