Severe distention of the kidney with dilation of the renal pelvis and calices.

A unilateral form of agenesis of the kidney.

A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.

Bilateral clubfoot deformity.

A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.

Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation.

Impairment of bile flow due to obstruction in bile ducts.

Abnormally increased size of the liver.

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 disorder characterized by the inability of the liver to metabolize chemicals in the body. Causes include cirrhosis and drug-induced hepatotoxicity. Signs and symptoms include jaundice and encephalopathy. Laboratory test results reveal abnormal plasma levels of ammonia, bilirubin, lactic dehydrogenase, and alkaline phosphatase.

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

Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis.

A type of Developmental delay characterized by a delay in acquiring motor skills.

Deficiency of antithrombin III is a major risk factor for venous thromboembolic disease. Two categories of AT-III deficiency have been defined on the basis of AT-III antigen levels in the plasma of affected individuals. The majority of AT-III deficiency families belong in the type I (classic) deficiency group and have a quantitatively abnormal phenotype in which antigen and heparin cofactor levels are both reduced to about 50% of normal. The second category of AT-III deficiency has been termed type II (functional) deficiency. Affected individuals from these kindreds produce dysfunctional AT-III molecules; they have reduced heparin cofactor activity levels (about 50% of normal) but levels of AT-III antigen are often normal or nearly normal (summary by Bock and Prochownik, 1987). The 2 categories of antithrombmin III deficiency have been classified further. Type I (low functional and immunologic antithrombin) has been subdivided into subtype Ia (reduced levels of normal antithrombin), and type Ib (reduced levels of antithrombin and the presence of low levels of a variant). Type II (low functional but normal immunologic antithrombin) has been subdivided into subtype IIa (functional abnormalities affecting both the reactive site and the heparin-binding site of AT3); subtype IIb (functional abnormalities limited to the reactive site); and subtype IIc (functional abnormalities limited to the heparin-binding site) (summary by Lane et al., 1992).

An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va.

Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.

Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.

One or more abnormally short long bone.

An increased concentration of cholesterol in the blood.

A decreased concentration of glucose in the blood.

The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.

Abnormally increased serum levels of alkaline phosphatase activity.

An increased concentration of ammonia in the blood.

Persistence of blood flow through the ductus venosus for longer than the normal time after birth.