Orphanet: Ichthyosis intellectual disability dwarfism renal impairment syndrome
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Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome

Disease definition

Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive.

ORPHA:2278

Classification level: Disorder
  • Synonym(s):
    • Passwell-Goodman-Siprkowski syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: -
  • OMIM: 242530
  • UMLS: C1855787
  • MeSH: C536274
  • GARD: 4641
  • 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

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