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Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome

Disease definition

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.

ORPHA:2274

Classification level: Disorder
  • Synonym(s):
    • Dykes-Marks-Harper syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive or X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 242520
  • UMLS: C1275088
  • MeSH: -
  • GARD: 1993
  • MedDRA: -

  A summary on this disease is available in Deutsch (2007) Français (2007) Italiano (2007) Nederlands (2007)

Detailed information

Guidelines

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Newborn screening

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.