The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.

A disordered proliferation of mature tissues that are native to the kidneys.

Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood.

Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).

Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney.

Non-continuity of the arch of aorta with an atretic point or absent segment.

Any abnormality of the cardiovascular system.

The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.

Accumulation of fluid in the peritoneal cavity.

Abnormal increased size of the viscera of the abdomen.

Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue.

Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells.

Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.

The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.

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.

Developmental hypoplasia of the mandible.

The presence of a hernia of the diaphragm present at birth.

Underdevelopment of the abdominal musculature.

An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.

A decreased concentration of glucose in the blood.

A facial appearance characterized by a permanently or nearly permanently opened mouth.

An abnormal morphology (form) of the face or its components.

Posterior positioning of the nasal root in relation to the overall facial profile for age.

Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.

Increased breadth of the nasal bridge (and with it, the nasal root).

Increased width of the upper lip.

Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip.

The presence of excess amniotic fluid in the uterus during pregnancy.