Congenital adrenal hyperplasia due to apparent combined P450c17 and P450c21 deficiency is a very rare genetic disease that affects how the adrenal glands make ...
Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a rare inherited disease that affects how the body makes important steroid ...
Congenital adrenogenital syndrome is another name for congenital adrenal hyperplasia (CAH). It is a group of genetic (inborn) disorders where the adrenal ...
Congenital adrenal hyperplasia, often called CAH, is a group of genetic problems that affect the adrenal glands. These are two tiny glands that sit on top of ...
Cerebellar ataxia co-occurrent with ectodermal dysplasia, also called cerebellar ataxia-ectodermal dysplasia syndrome, is a very rare genetic condition where a ...
Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
C1q nephropathy is a rare kidney disease. It affects the filters of the kidney called glomeruli. In this disease, the body’s immune system leaves a protein ...
Exstrophy of the urinary bladder sequence is a rare birth condition. It starts when a baby is growing in the womb. The lower belly wall does not close. The ...
Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Bladder exstrophy–epispadias–cloacal exstrophy complex (BEEC) is a group (a spectrum) of rare birth defects that affect the front wall of the belly and the ...
Bladder exstrophy is a rare birth defect. It happens when a baby’s lower tummy wall and the front wall of the bladder do not close before birth. Because of ...
Polyomavirus-associated nephropathy is kidney damage caused by reactivation of a common virus (usually BK polyomavirus) in people who receive a kidney ...
BK-virus nephropathy is kidney damage caused by the BK polyomavirus. Most people catch BK virus in childhood and the virus then “sleeps” silently in the ...
Multicystic renal dysplasia (MCDK) is a birth condition where one kidney (rarely both) does not form in the normal way during pregnancy. Instead of having ...
Bilateral multicystic renal dysplasia means both kidneys did not form in the usual way while the baby was in the womb. The normal sponge-like kidney tissue is ...
Bilateral multicystic dysplastic kidney (bilateral MCDK) means both kidneys did not form normal working tissue before birth. Instead of healthy kidney tissue, ...
Infantile Bartter syndrome with sensorineural deafness is a rare, inherited kidney salt-wasting disorder that starts before birth. Babies lose too much salt ...
Bartter syndrome with sensorineural hearing loss (type IV) is a rare, inherited kidney salt-wasting disorder that begins before or soon after birth. The ...
Bartter syndrome with sensorineural deafness is a rare, inherited kidney salt-wasting disorder that also causes permanent hearing loss. The kidney problem ...
Bartter syndrome type 4 is a rare, inherited kidney tubule disorder. The kidney cannot reabsorb enough salt in a specific segment of the nephron (the thick ...
Renal Tubular Normotensive Hypokalemic Alkalosis with Hypercalciuria is a salt-wasting kidney tubule disorder. The kidney’s thick ascending limb of the loop of ...
Bartter syndrome with hypercalciuria and nephrocalcinosis is a rare, inherited kidney salt-wasting disorder. The problem lives in the “thick ascending limb” of ...
