Miller-Dieker syndrome (MDS)

Miller-Dieker syndrome is a disease characterised by a developmental defect of the brain, caused by incomplete neuronal migration.

Liddle’s Syndrome

Liddle syndrome is an autosomal dominant disorder characterized by early, and frequently severe, hypertension associated with low plasma renin activity, metabolic alkalosis due to hypokalemia, and hypoaldosteronism (low secretion of aldosterone). It is one of several conditions with this unusual set of characteristics known collectively as pseudohyperaldosteronism. Hypertension due to this syndrome often begins in infancy. Liddle syndrome involves abnormal kidney function, with excess resorption of sodium and loss of potassium from the renal tubule, and is treated with a combination of low sodium diet and potassium-sparing diuretic drugs (e.g., amiloride). Fewer than 30 pedigrees or isolated cases have been reported worldwide as of 2008