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Ліподистрофія внаслідок дефіциту пептидних факторів росту

ORPHA:1979· ICD-10 E88.1· Lipodystrophy due to peptidic growth factors deficiency

Визначення(English summary)

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.

Поширеність
<1 / 1 000 000
Успадкування
Unknown
Вік початку
Neonatal