Diseases title

Ichthyosis - hepatosplenomegaly - cerebellar degeneration )

Helice
Orpha Number: 2274
Synonym(s):
Dykes-Markes-Harper syndrome

This 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.
source: Orphanet