Rett syndrome is a rare genetic disease affecting 1 in 10,000 newborn girls, characterized by sudden regression around 1 year ...

The original case of Joubert syndrome was followed for 30 years. At 30 years of age, this man had severe dysarthria, but the hyperpnea and apnea had diminished. His abnormal eye movements were ...

A systematic head-to-toe physical examination is essential to identify infants who are at risk. Note the infant's overall appearance, position of preference, muscle tone, activity, and vigor ...

Metabolic syndrome is a constellation of conditions that together increase the risk of type 2 diabetes, stroke, and cardiovascular problems, including heart attack. The features of metabolic syndrome ...

Purpose: Smith-Magenis syndrome (SMS) is a complex disorder that includes mental retardation, craniofacial and skeletal anomalies, and behavioral abnormalities. We report the molecular and ...

A 40-year-old man suspected of having Guillain-Barre Syndrome (GBS) died in Solapur, Maharashtra. Over 100 cases of GBS have been reported in Pune. The syndrome, often triggered by bacterial and viral ...

Budd-Chiari syndrome (BCS) is a group of rare conditions in which veins in the liver become blocked. An ultrasound for BCS may show atypical, narrowed, or potentially blocked veins inside the liver.

What is Zollinger-Ellison syndrome? Zollinger-Ellison syndrome (ZES) is a rare digestive disorder. If you have ZES, you likely have 1 or more tumors in the first part of the small intestine, the ...