Allanson Pantzar McLeod syndrome

Synonyms

Monocarboxylate transporter 8 deficiency
MCT8 deficiency

Overview

A rare genetic disorder where abnormal development of kidney tubules results in severe kidney problems that start during the fetal stage.

Symptoms

  • Absent fetal urine output
  • Perinatal death
  • Underdeveloped lungs
  • Reduced amniotic fluid
  • Abnormal skull ossification
  • Stillbirth
  • Small head
  • Underdeveloped skull bones
  • Wide fontanels
  • Skull abnormalities