Klinefelter syndrome also known as 47,XXY or XXY, is the set of symptoms that result from two or more X chromosomes in males. Apart from 47,XXY there also 48,XXXY and 49,XXXXY types exist. This is called as variants of Klinefelter syndrome. Klinefelter syndrome is a form of primary testicular failure, with elevated gonadotropin levels due to lack of […]
Fragile X syndrome an X-linked disorder caused by expansion of the CGG trinucleotide repeat affecting the Fragile X mental retardation 1 (FMR1) gene on the X chromosome. X-linked dominant – males are more severely affected by this disorder than females. It is the most common inherited form of mental retardation and second only to Down’s […]
Turner syndrome (gonadal dysgenesis – 45,X) is a condition in which a female is partly or completely missing an X chromosome. Signs and symptoms Short stature Lymphedema of the hands and feet of a newborn Broad chest and widely spaced nipples Protruding ears (low set ears) Low Posterior hairline Reproductive sterility Rudimentary ovaries gonadal streak (underdeveloped […]
Vesicoureteral reflux (VUR) – Abnormal backflow of urine from the bladder into the ureters/kidneys. Bacteria in the lower urinary tract can easily be spread by reflux to the upper tract, leading to recurrent infection with potential scarring and renal dysfunction. Grading Grade I – reflux into non-dilated ureter (results in urine reflux into the ureter only) […]
Gastroesophageal reflux Disease(GERD) occurs when stomach contents reflux, or back up, into the esophagus during or after a meal. The lower esophageal sphincter (LES) normally opens to release gas after meals. When the LES opens, stomach contents often reflux into the esophagus and out the mouth, resulting in regurgitation, or spitting up, and vomiting. GERD […]
DiGeorge syndrome is also known as 22q11.2 deletion syndrome, DiGeorge anomaly, velocardiofacial syndrome (VCFS), Shprintzen syndrome, conotruncal anomaly face syndrome or Takao syndrome,Sedlackova syndrome, Cayler cardiofacial syndrome,Strong syndrome, congenital thymic aplasia, and thymic hypoplasia.
Reye’s syndrome is encephalopathy combined with hepatic fatty infiltration which usually begins shortly after recovery from an acute viral illness, especially influenza and varicella (chickenpox) in a child who has recently had aspirin or salicylates.