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Lipodystrophy due to peptidic growth factors deficiency

Disease definition

A rare genetic lipodystrophy characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk). Additional clinical signs include joint contractures, reduced relative body weight, a bird-like facial appearance with a beaked nose, micrognathia and insulin-resistant diabetes mellitus.

ORPHA:1979

Classification level: Disorder
  • Synonym(s):
    • Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency
    • Hoepffner-Dreyer-Reimers syndrome
    • Werner-like syndrome due to combined growth factor deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Neonatal
  • ICD-10: E88.1
  • OMIM: 233805
  • UMLS: C1856243  C2931279
  • MeSH: -
  • GARD: 12604
  • MedDRA: -

Detailed information

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