IMAGE syndrome

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]

Overview

IMAGe is a complex syndrome involving dysmorphic features; disorders of growth, gonadal, and adrenal function; and skeletal abnormalities. It is a multisystem disorder with a broad phenotype, which, if unrecognized, may result in major and possibly life-threatening complications.

Pathophysiology

IMAGe syndrome is characterized by

• Intrauterine growth restriction
• Metaphyseal dysplasia
• Adrenal hypoplasia congenita
• Genital abnormalities

Differentiating IMAGe syndrome from other Diseases

IMAGe syndrome should be differentiated from the following diseases:

• Russell-Silver syndrome (RSS)
• Isolated growth hormone (GH) deficiency

Diagnosis

Physical Examination

Head

• Micrognathia

Ear

• Small low-set ears

Genitals

• Bilateral cryptorchidism
• Micropenis

Extremities

• Skeletal abnormalities.