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 "deafness" symptom

  • dentinogenesis imperfecta
  • epidermolysis bullosa simplex
  • hirschsprung disease
  • kabuki syndrome
  • kallmann syndrome
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • neonatal adrenoleukodystrophy
  • oculocutaneous albinism
  • pendred syndrome
  • von hippel-lindau disease
  • wolf-hirschhorn syndrome
  • x-linked adrenoleukodystrophy

This symptom has already been validated