Lipodystrophy due to peptidic growth factors deficiency

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Synonyms: 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

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Lipodystrophy due to peptidic growth factors deficiency?

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