Category: C

A type of intelligence test used to assess the mental development of children aged three to 30 months. Various stimulus items, such as cubes, pencils, and pegboards, are used to assess the child’s motor control; the test administrator takes notes on the responses and also on infant attempts to communicate.  

A type of electronic machine that monitors heartbeat, often used to alert parents or medical staff to dangerous irregularities in the heartbeat of a premature infant, such as one susceptible to sleep apnea or thought at risk for sudden infant death syndrome. Sometimes a cardiorespiratory monitor is used to monitor both heartbeat and breathing. Device…

Congenital spondyloepiphyseal dysplasia (SED) is a rare inherited disorder transmitted in an autosomal dominant manner. This disorder is typified by a growth deficiency before birth; it is associated with spinal malformations and abnormalities of the eyes. As the individual ages, the” growth deficiency usually results in short stature (dwarfism). SED congenita may also be referred…

The porphyrias are a group of inherited disorders in which there is only one normal gene to produce a key enzyme in the biosynthesis of chelated iron or heme. With only one normal gene, there is a reduced level of normal enzyme activity, resulting in a buildup of the precursors behind the deficient enzyme. This…

Cyclic neutropenia (CN) is a congenital, inherited disorder of white blood cell production. Its most characteristic feature is regular, periodic decreases in the numbers of circulating neutrophils (neutropenia). Neutrophils are a type of white blood cells produced in bone marrow. They are major players in combating infections caused by invading bacteria, viruses, and fungi. A…

Bodily exploration and genital stimulation are part of normal child development. It is common for children under 24 months of age to explore and fondle their genitals, and for children from 3-5 years to engage in masturbation for pleasure and even to experience orgasm. Indeed, there remains no evidence to support the centuries of proclamations…

CHILD (congenital hemidysplasia with ichthyosis erythroderma and limb defects) syndrome is an inherited disorder that is usually present at birth. It is characterized by skin anomalies and limb defects on one side of the body.  

Chanarin Dorfman syndrome is a hereditary disorder of lipid metabolism almost always accompanied by dry, scaly skin (ichthyosis). Myopathy (degeneration of the muscles) and fat deposits appearing in the white blood cells also are commonly seen in patients with Chanarin Dorfman syndrome. This is a highly uncommon autosomal recessive genetic condition that impacts fat metabolism.…

Congenital heart block occurs when there is an interference with the normal conduction of electrical impulses that control the heart muscle, particularly between the upper and lower heart chambers. Varying degrees of this condition exist: In first-degree heart block, the contractions of the lower chambers (ventricles) lag slightly behind the two upper chambers of the…

Constitutional growth delay is a disorder that is characterized by a temporary delay in skeletal growth (National Organization for Rare Disorders [NORD], 1991). It is often a cause of parental concern about growth. This pattern occurs when a child (usually short) has a slowdown in growth just before puberty and possibly a delay in beginning…