/lipodystrophy due to peptidic growth factors deficiency

lipodystrophy due to peptidic growth factors deficiency

Rare Disease

MONDO:0009312

Also Known As

Hoepffner-Dreyer-Reimers syndromeWerner-like syndrome due to combined growth factor deficiencycombined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiencyHoepffner Dreyer Reimers syndromeWerner-like syndrome due to combined Growth Factor deficiencygrowth factors, combined defect OFinsulin, insulin-like Growth Factor I, and Epidermal Growth Factor deficiencypeptide growth factors deficiencypeptidic growth factors deficiency

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).