Rare Diseases Symptoms Automatic Extraction

Pendred syndrome with retrosternal goitre- a rare case report.

[pendred syndrome]

Pendred syndrome is a recessively inherited disorder characterized by goiter associated with sensory-neural deafness. The thyroid glands of affected individuals cannot organify iodide efficiently due to a defective gene in chromosome 7. Here we report a case of Pendred syndrome with retrosternal goitre.

Diseases presenting "goiter" symptom

  • cowden syndrome
  • familial mediterranean fever
  • kabuki syndrome
  • pendred syndrome

This symptom has already been validated