x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

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).

ORPHA:1979

  • 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

Professionals

Additional information

Further information on this disease

Specialised Social Services

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.