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

A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice.

An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.

Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.

Slow or limited growth after birth.

Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.

Impairment of bile flow due to obstruction in the small bile ducts within the liver.

Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.

Reduced ability of the liver to perform its functions.

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

Steatosis is a term used to denote lipid accumulation within hepatocytes.

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.

A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.

Complete lack of development of speech and language abilities.

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

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.

Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.

The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.

Head circumference below 2 standard deviations below the mean for age and gender at birth.

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.

An abnormally high concentration in the circulation of alanine aminotransferase (ALT).

Reduction in the concentration of albumin in the blood.

Abnormally high level of conjugated bilirubin in the blood.

Abnormally increased serum levels of alkaline phosphatase activity.

Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.

A reduced concentration of zinc in the blood.

An increased concentration of ammonia in the blood.

The facial appearance is more circular than usual as viewed from the front.

Increased prominence or roundness of soft tissues between zygomata and mandible.

Diminished amniotic fluid volume in pregnancy.