Beckwith-Wiedemann Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A genetic syndrome caused by abnormalities in chromosome 11. It is characterized by large birth weight, macroglossia, umbilical hernia, ear abnormalities, and hypoglycemia. Patients with this syndrome have an increased risk of developing embryonal tumors (gonadoblastoma, hepatoblastoma, Wilms tumor, rhabdomyosarcoma) and adrenal cortex carcinomas.

**Synonyms:** - BWS - Beckwith-Wiedemann - Beckwith-Wiedemann Spectrum - Beckwith-Wiedemann Syndrome/Isolated Hemihyperplasia - Beckwith-Wiedemann syndrome