ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome

MeSH: C535727ORPHA: 2274

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

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.

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome, sourced from HPO and Orphanet clinical annotations.

DementiaAtaxiaHyporeflexiaGait disturbanceSplenomegalyAbnormal speech patternHepatomegalyIchthyosis

Classification & Codes

MeSH Code

C535727

Orphanet Code

ORPHA:2274

ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome

MeSH	`C535727`
Orphanet	`ORPHA:2274`
Treatments	0 drug(s)
Symptoms on record	8 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO