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Medical Genetics: Types of Genetic Changes The human body has about 20,000 different genes in each cell. Genes are located on chromosomes, which are stick-shaped structures in the middle of the cell (nucleus). Each cell usually has 46 chromosomes grouped in 23 pairs. Each gene

Dysphagia in Children What is dysphagia in children? Dysphagia means trouble swallowing. This condition happens when food or liquids can’t pass easily from your child’s mouth into the throat, down the esophagus, and into the stomach when swallowing. What causes dysphagia in a

Microcephaly in Children What is microcephaly in children? Microcephaly is a condition where a baby's head is much smaller than normal. It is most often present at birth (congenital). Most children with microcephaly also have a small brain and an intellectual disability. Some

Persistent Depressive Disorder in Children What is persistent depressive disorder in children? Persistent depressive disorder is a type of depression. Depression affects a child’s body, mood, and thoughts. It can disturb eating, sleeping, or thinking patterns. It's not the same

Neurocutaneous Syndromes in Children What are neurocutaneous syndromes in children? Neurocutaneous syndromes are disorders that affect the brain, spinal cord, organs, skin, and bones. The diseases are lifelong conditions that can cause tumors to grow in these areas. They can also

22q11.2 Deletion Syndrome in Children What is 22q11.2 deletion syndrome in children? The 22q11.2 deletion syndrome (22q11.2DS) is a genetic disorder. In children with this syndrome, a tiny piece of chromosome 22 is missing. This can cause many health problems. These problems may

Femoral Anteversion in Children What is femoral anteversion in children? Femoral anteversion is an inward twisting of the thighbone (femur). The femur is the bone that is located between the hip and the knee. This health problem causes a child’s knees and feet to turn inward. The

Tennis Elbow in Children What is tennis elbow in a child? Tennis elbow (lateral epicondylitis) is a painful issue caused by overuse. The tendons that join the forearm muscles to the outside part of the elbow get inflamed or damaged. This is usually caused by repeated use of those

Cytomegalovirus (CMV) in Newborns What is CMV in newborns? CMV (cytomegalovirus) is a type of herpes virus. It's very common. It affects people of all ages and in all parts of the U.S. In most cases, CMV causes mild symptoms, or no symptoms at all. But it can cause serious

Dyskeratosis Congenita in Children What is dyskeratosis congenita in children? Dyskeratosis congenita is a congenital disease. This means it's present at birth. It's a very rare condition. It affects the skin and nails. In its most severe form, it causes bone marrow failure. When