/familial partial lipodystrophy, Kobberling type

familial partial lipodystrophy, Kobberling type

Rare Disease

MONDO:0012072

Also Known As

FPLD1familial partial lipodystrophy type 1familial partial lipodystrophy type Köbberlingfamilial partial lipodystrophy, Köbberling typelipodystrophy, familial partial, Kobberling typelipodystrophy, familial partial, type 1

Definition

Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.