The presence of multiple cysts in both kidneys.

A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter.

An abnormal increase in the size of the kidney.

A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.

A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.

The presence of developmental dysplasia of the kidney.

The presence of a stenosis (narrowing) of the aortic valve.

In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.

Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.

Increased pressure in the portal vein.

A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs.

Impairment of bile flow due to obstruction in bile ducts.

Abnormally increased size of the liver.

A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.

Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease.

A cyst of the pancreas that possess a lining of mucous epithelium.

An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.

The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.

Proliferative changes of the bile ducts.

A cystic lesion located in the liver.

Dandy-Walker malformation is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. Affected individuals often have motor deficits such as delayed motor development, hypotonia, and ataxia; about half have mental retardation and some have hydrocephalus. DWM is a heterogeneous disorder. The low empiric recurrence risk of approximately 1 to 2% for nonsyndromic DWM suggests that mendelian inheritance is unlikely (summary by Murray et al., 1985).

A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.

Abnormal increased size of the spleen.

Absence (aplasia) of the spleen.

Polysplenia is a congenital disease manifested by multiple small accessory spleens.

A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose.

Small indentation anterior to the insertion of the ear.

Diminished amniotic fluid volume in pregnancy.