Dravet syndrome is an uncommon genetic neurodevelopmental disorder starting in infancy and marked by multiple seizure types which may include deadly chronic seizures that need emergency medical care. The condition was first reported in 1978 by Dr. Charlotte Dravet, a French doctor. It is also known by other names, including PMEI/ polymorphic epilepsy in infancy,… Continue reading Dravet Syndrome
Category: Syndromes
Prader-Willi syndrome
Prader-Willi syndrome is a rare congenital disease marked by diverse physical, mental, and behavioral deficits. Affected children tend to suffer from insatiable hunger pangs, after they turn a year old. This unique feature persists for the lifetime of the patient. Continuous eating to quell the hunger pangs results in drastic weight gain, obesity, and varied… Continue reading Prader-Willi syndrome
Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann syndrome is a hereditary overgrowth disease that affects a baby from the time it is born. It occurs along with a high risk of cancer development as well as inheriting certain unusual characteristics, including ear pits or ear creases, macrosomia, anomalies of the midline abdominal lining or wall, macroglossia, and congenital instances of low… Continue reading Beckwith-Wiedemann Syndrome
Patau Syndrome
Patau syndrome is a hereditary disorder which occurs because of an extra copy of chromosome 13. Usually there are two copies of chromosome 13, but in this case, instead of 2 there are 3 copies. Patau syndrome is mostly called as Trisomy 13 wherein a part of chromosome 13, or whole, is three times more… Continue reading Patau Syndrome