What is Ramsay Hunt Syndrome? Ramsay Hunt Syndrome is an infection caused by the herpes virus of geniculate nerve ganglion. This leads to paralysis of facial nerves on the similar side as that of the infection. The disorder also leads to development of rash in ears or the area surrounding. The syndrome has been named after James Ramsay Hunt, an American neurologist. Ramsay Hunt Syndrome Type I Ramsay Hunt Syndrome Type I is a rare type of progressive cerebellar dyssynergia. The main characteristics include tremors, convulsions or myoclonic epileptic jerks. The tremors usually starts at one point in extremity and gradually spread to other parts. Arms are affected more than [...]
Syndromes
Marfan Syndrome
by on 02. Apr, 2011 in Syndromes
What is Marfan Syndrome ? Marfan’s syndrome is a genetic disorder which mainly affects the connective tissues leading to abnormalities of eyes, musculoskeletal system and cardiovascular system. Named after Antoine Marfan, a French pediatrician, the syndrome is characterized by joint flexibility, bone elongation, myopia, glaucoma, retinal detachment, early cataracts and lens displacement from the pupil’s center. Marfan Syndrome Facts Marfan syndrome is a heritable disorder which occurs due to a chromosome 15q21.1 disorder. This affects fibrillin production which is necessary for the production of connective tissues. This syndrome affects adults and children alike and irrespective of genders, races or ethnic backgrounds. It affects various body systems including skeleton, nervous system, [...]
Klinefelter syndrome
by on 15. Nov, 2010 in Syndromes
What is Klinefelter Syndrome ? Klinefelter syndrome is the condition where a male has an additional X chromosome in his cells. Under normal conditions, a male has XY chromosome pattern whereas for males with Klinefelter syndrome the pattern differs to XXY. This extra X chromosome leads to development of various abnormalities like small testes, enlarged breasts, long legs, mental retardation and reduced sperm production. Klinefelters syndrome is considered as the most commonly occurring chromosome disorder related to sexuality. It affects every 1 of 500 males even though the symptoms are not apparent for most. Klinefelter syndrome derives its name from Dr. Harry Klinefelter, an American endocrinologist and rheumatologist who was [...]
Cornelia de Lange Syndrome
by on 12. Nov, 2010 in Syndromes
What is Cornelia de Lange Syndrome ? A lesser known ailment that causes various congenital irregularities including mental and physical development of the child and defined as Cornelia de Lange Syndrome, affects many body parts with varying severity. It is usually distinguished by slow growth rate prior to and after birth. Other characteristics include skeletal abnormalities of hands and arms along with distinctive facial features like low-set ears, small or upturned nose, long eyelashes, arched eyebrows that grow together from middle, and wide spaced teeth. The syndrome is named after a Dutch pediatrician, Cornelia de Lange, owing to his intense research on this subject. This syndrome is also known by [...]
CHARGE Syndrome
by on 06. Oct, 2010 in Syndromes
CHARGE Syndrome Definition CHARGE Syndrome is a congenital set of symptoms in children resulting due to a genetic disorder. It is in fact an acronym for the following characteristics seen in the affected children: C – Coloboma of eye H – Heart problems A – Atresia of choanae R – Retardation of development or growth G – Genital disorders E – Ear disorders CHARGE syndrome is also less commonly known as Hall-Hittner syndrome. It is an autosomal dominant genetic disorder that usually develops due to Chromodomain helicase DNA-binding protein-7 (CHD7) gene’s mutations. CHARGE Syndrome Life Expectancy 70% of the children diagnosed with various CHARGE syndrome features have been found to [...]
Proteus Syndrome
by on 01. Oct, 2010 in Syndromes
Proteus Syndrome Definition Proteus syndrome or Wiedemann’s syndrome is a congenital disorder resulting in overgrowth of body parts along with abnormalities of bone and skin. It involves a congenital malformation disorder where an organ or tissue overgrows in a patchy distribution. Proteus Syndrome Facts It was first recognized by Michael Cohen Jr. in the year 1979 and later named as proteus syndrome by Hans-Rudolf Wiedemann, a German pediatrician, in the year 1983. Hence, this is also known as Wiedemann syndrome. Proteus syndrome has been named after the Greek God Proteus who is believed to be capable of changing his form or shape as part of self-defense. This syndrome was popularized [...]
Back to Top