Knowledge on rare diseases and orphan drugs
COVID-19 & Rare diseases
Rare Diseases Resources for Refugees/Displaced Persons
Search for a rare disease
Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
A rare genetic neurologic syndrome characterized by the triad of ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia that presents with progressive dysarthria, unsteadiness of gait. Ichthyosis usually manifests with marked hyperkeratosis, affecting the hands, arms and legs, primarily on the extensor surfaces of the limbs. The severity of ataxia and disability of limb movements are variable. Upward vertical gaze palsy, sluggish reflexes and impaired memory may also be present. There have been no further descriptions in the literature since 1979.
ORPHA:2274
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
General public
Guidelines
Disease review articles
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Newborn screening