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Lipodystrophy due to peptidic growth factors deficiency

Disease definition

Deficiency of the peptidic growth factors is 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).


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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