Bartter's syndrome (BS) is a group of conditions involving enlargement of certain kidney cells, blood that is more alkaline than normal, high levels of potassium and chloride in the urine, loss of potassium from the kidneys (renal potassium wasting), dehydration, muscle weakness, muscle cramps, frequent urination, and growth deficiency, potentially resulting in dwarfism. It is thought to be caused by a defect in the body's ability to reabsorb  Read More

Bartter's syndrome (BS) is a group of conditions involving enlargement of certain kidney cells, blood that is more alkaline than normal, high levels of potassium and chloride in the urine, loss of potassium from the kidneys (renal potassium wasting), dehydration, muscle weakness, muscle cramps, frequent urination, and growth deficiency, potentially resulting in dwarfism. It is thought to be caused by a defect in the body's ability to reabsorb  Read More

Hypercalcemia-supravalvar aortic stenosis is a condition in which the calcium levels in your blood are too high. It can be caused by a number of factors, including the use of certain medications, overactive parathyroid glands (which are responsible for regulating the amount of calcium in your body), or kidney failure.1. When this condition occurs, it can cause many symptoms like fatigue and weakness as well as more  Read More

Juberg-Marsidi syndrome is an extremely rare X-linked genetic disorder that is fully expressed in males only, and is apparent at birth (congenital) or during the first few weeks of life (neonatal period). Affected children exhibit severe mental retardation; delays in reaching developmental milestones (e.g., crawling, walking, etc.); muscle weakness; diminished muscle tone (hypotonia); and/or delayed bone growth as well as growth retardation, r  Read More

Marinesco-Sjogren syndrome (MSS) is a rare genetic disorder that affects multiple organ systems of the body. Common symptoms include difficulty coordinating voluntary movements due to degeneration (atrophy) of the cerebellum (cerebellar ataxia), clouding of the lenses of the eyes (cataracts), delays in the acquisition of skills requiring the coordination of muscular and mental activity (psychomotor development), diminished muscle tone (hypoton  Read More