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Glossary of Medical Terms

Albinism

A rare, inherited disorder in which no melanin, a dark brown pigment, is formed. Children with albinism have white hair, pale skin, and pink eyes. Often they also have abnormal vision and involuntary eye movements (nystagmus).

Anemia A condition in which the number of red blood cells or the amount of hemoglobin (the protein that carries oxygen) in them is low. Anemia is usually detected or confirmed with a complete blood cell (CBC) count. The most common causes are iron deficiency due to inadequate iron in the baby’s diet or excessive blood loss.
Cerebral Palsy A disorder that affects a child’s movement and posture and does not worsen over time.
Cleft lip/Cleft Palate

The most common defects of the skull and face are cleft lip and cleft palate. These defects result from the failure of the upper lip or the roof or the mouth to close during fetal development. Cleft lip and palate can be on one side (unilateral) or on both sides (bilateral). The defects usually occur together and affect about one in every 600-700 births. Surgical repair is needed to close the lip and palate. Eating and speech development are the biggest concerns.

China defines clefts on the basis of 1st, 2nd, and 3rd degrees.

  • 1st degree cleft lip: only red lip is dehiscent
  • 2nd degree cleft lip: cleft is over red lip but not arrived in the bottom of nose
  • 3rd degree cleft lip: cleft is from red lip to the bottom of nose

1st degree cleft lip and 2nd degree cleft lip are called incomplete cleft lip. 3rd degree cleft lip is called complete cleft lip.

  • 1st degree cleft palate: soft palate fissure
  • 2nd degree cleft palate: uranostaphyloschisis, fissure of hard and soft palate
  • 3rd degree cleft palate: complete cleft palate, including alveolar process fissure
Club Feet A birth deformity in which the foot/feet are twisted out of the normal position. The arch of the foot may be very high, or the foot may be turned inward or outward. Early treatment with casting may be beneficial, but correctable surgery is generally needed.
Congenital Amputation

A condition in which an arm or leg or parts of an arm or leg are missing. The cause is often unknown. Children often become very adept at using the affected limb and modern prosthetics can make the limb more functional.

Congenital Cataracts Cloudy opacities in the lens of the eye that are present at birth. These may be caused by chromosomal abnormalities, infections such as measles, or other diseases that the birthmother may have had. Surgical removal is necessary for the child to develop normal vision.
Congenital Dislocated Hip Condition where a newborn’s thighbone (femur) is separated from the hip socket. Sometimes double or triple diapering may position the infant to correct the problem. If not, splints or orthopedic surgery may be needed.
Congenital Heart Defects

Approximately one in 120 infants are born with a heart defect, many of which are not severe. Congenital heart defects may involve abnormal formation of the walls of the heart, the valves or the blood vessels that enter or leave the heart. Following are descriptions of some of the more common heart defects. *

  • Patent Ductus Arteriosus- While in the womb, much of a fetus’ blood goes through a passageway (ductus arteriosus) from one blood vessel to another instead of to the lungs, because the lungs are not yet in use. The passageway should close soon after birth, so the blood can take the normal route from heart to lungs and back. If it doesn’t close, blood doesn’t flow correctly. This problem occurs most frequently in premature babies. In some cases, drug treatment can help close the passageway. If that doesn’t work, surgery can close it.
  • Septal Defects- If the defect is a hole in the wall (septum) that divides the two upper or two lower chambers, the blood can’t circulate as it should and the heart has to work too hard. A surgeon can close the hole by sewing or patching it. Small holes may heal by themselves or not need repair at all.
  • Coarctation of the Aorta- Part of the aorta, the large artery that sends blood from the heart to the rest of the body, may be too narrow for the blood to flow evenly. A surgeon can cut away the narrow part and sew the open ends together, replace the constricted section with man-made material or patch it with part of a blood vessel taken from elsewhere in the body. Sometimes this narrowed area can be widened by inflating a balloon on the tip of a catheter inserted in an artery.
  • Heart Valve Abnormalities- Some babies are born with heart valves that are narrowed, closed or blocked and prevent blood from flowing smoothly. Surgeons usually can repair the valves or replace them with man-made ones. Balloons on catheters are frequently used as well, making surgery unnecessary.
  • Tetralogy of Fallot- A combination of four heart defects keeps some blood from getting to the lungs for oxygen, and the baby becomes blue and sickly. New surgical techniques allow early repair of this complex heart defect, so that most affected children live normal or near-normal lives.
Developmental Delays A developmental delay occurs when a child has the delayed achievement of one or more of his milestones. This may affect the child's speech and language, his fine and gross motor skills and/or his personal and social skills.
Drug Exposed Infants May exhibit low birth weight, premature birth, SIDS, failure to thrive, birth defects, developmental and learning problems.
Fetal Alcohol Syndrome According to the Missouri Department of Mental Health, Fetal Alcohol Syndrome (FAS) is a pattern of mental and physical defects which develops in some unborn babies when the mother drinks too much alcohol during pregnancy. A baby born with FAS may be seriously handicapped and require a lifetime of special care. Some babies with alcohol-related birth defects, including smaller body size, lower birth weight, and other impairments, do not have all of the classic FAS symptoms. These symptoms are sometimes referred to as Fetal Alcohol Effects (FAE).
Global Developmental Delays According to Keepkidshealthy.com, A child is considered to have global delays when they have delays in all areas of their development. These can be caused by an incident at or near the time of birth, which don’t tend to worsen over time. Or global delays can be progressive and worsen over time, caused by diseases that progress with time.
Hepatitis

Any inflammation of the liver, most frequently caused by one of the hepatitis viruses.

  • Hepatitis A- This virus spreads primarily by fecal contamination of food and water. A vaccination is available for travelers to areas where the disease is prevalent.
  • Hepatitis B – This hepatitis virus is primarily spread through contaminated needles or blood products, sexual contact or congenitally (a mother passes the virus to her baby during birth). Hepatitis B immunization is now one of the required immunizations for schoolchildren in the United States.
  • Hepatitis B Carrier- Child is infected but has no symptoms at the time. This child could, in the future, get rid of the virus completely, could keep having an infection with no symptoms or could develop chronic active hepatitis.
  • Active Hepatitis B- The virus is in the child’s system and they have symptoms and physical signs of the infection. This means the virus is causing some damage somewhere in the body, most frequently in the liver.
Hypospadias An abnormality of the urethra where the opening is on the underside of the penis
Inguinal Hernia A common type of hernia in which a loop of the intestine protrudes directly through a weak area of the abdominal wall in the groin area. It is the most common type of hernia for males. Medical assessment is required and surgery may be required.
Meningocele Congenital hernia in which the meninges (membranes) protrude through an opening of the skull or spinal column.
Nystagmus Rapid rhythmic repetitious eye movements

Polio (poliomyelitis)
A highly contagious disease caused by a virus, spread in developing countries primarily through contaminated water supplies. Polio can cause permanent muscle weakness, and paralysis and can sometimes be fatal.
Port Wine Stain (nevi flammeus) A flat, pink, red or purplish, discoloration present at birth. Most of these birthmarks are physically harmless. Small port wine stains can be covered with cosmetic cream. Larger ones can be removed with a laser.
Post Polio Syndrome In post polio syndrome, survivors of a polio infection may experience progressive muscle weakness that gradually worsens. It often is accompanied by decreased muscle endurance during activities, muscle and joint pain, muscle wasting and severe fatigue. Even muscles that were believed to be unaffected by the previous bout with polio may be affected. These symptoms usually develop 15 years or more after the original illness.
Rickets A deficiency condition in children that results in inadequate mineral deposits in cartilage and newly formed bone. This deficiency usually comes from a lack of vitamin D in the diet or from inadequate exposure to sunlight.
Strawberry Marks (capillary hemangiomas) A raised, bright red tissue mass with small blood vessels that varies from .1 to 4 inches across. More than three quarters of these disappear by age 7, but some leave a wrinkled brown appearance. They usually do not need to be surgically removed unless they are near the eyes or other vital organs.
Thalassemia A hereditary form of anemia resulting from the underproduction of hemoglobin, the molecule in red blood cells that carries oxygen. It occurs in populations bordering the Mediterranean and in Southeast ASIA. The severity of the disease varies depending on the type of thalassemia and may range from mild to severe.
Umbilical Hernia A small area of weakness or separation in the abdominal wall at the umbilicus (navel) allows the umbilicus to protrude outward. The condition is painless and usually corrects during the first two years of life.

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