BIRTH DEFECTS

CEREBRAL PALSY The term cerebral palsy refers to any one of a number of neurological disorders that appear in infancy or early childhood and permanently affect body movement and muscle coordination but don’t worsen over time. Even though cerebral palsy affects muscle movement, it isn’t caused by problems in the muscles or nerves. It is caused by abnormalities in parts of the brain that control muscle movements.

 The majority of children with cerebral palsy are born with it, although it may not be detected until months or years later.  The early signs of cerebral palsy usually appear before a child reaches 3 years of age. The most common are a lack of muscle coordination, stiff or tight muscles and exaggerated reflexes, walking with one foot or leg dragging, and muscle tone that is either too stiff or too floppy.  A small number of children have cerebral palsy as the result of brain damage in the first few months or years of life, brain infections such as bacterial meningitis or viral encephalitis, or head injury from a motor vehicle accident, a fall, or child abuse.

CYSTIC FIBROSIS  Cystic Fibrosis is an inherited disease caused by an altered gene. Cystic fibrosis is characterized by the production of abnormally thick and sticky mucus which most frequently obstructs the lungs and pancreas. This lung obstruction makes breathing difficult and leads to progressive chronic and life-threatening lung infections.  Cystic fibrosis occurs most commonly among whites. The median age of survival in 2006 was 36.9 years compared to 25 years in 1985, 14 years in 1969 and five years in 1955.

 Down syndrome (DS), also called Trisomy 21, is a condition in which extra genetic material causes delays in the way a child develops, both mentally and physically. It affects about 1 in every 800 babies.

 In most cases of Down syndrome, a child gets an extra chromosome 21 — for a total of 47 chromosomes instead of 46. Although no one knows for sure why DS occurs and there's no way to prevent the chromosomal error that causes it, scientists do know that women age 35 and older have a significantly higher risk of having a child with the condition.

 Kids with Down syndrome tend to share certain physical features such as a flat facial profile, an upward slant to the eyes, small ears, and a protruding tongue.  Down syndrome affects kids' ability to learn in different ways, but most have mild to moderate intellectual impairment.

 Almost half of all children born with DS will have a congenital heart defect.  Approximately half of all kids with DS also have problems with hearing and vision.  Other medical conditions that may occur more frequently in kids with DS include thyroid problems, intestinal abnormalities, seizure disorders, respiratory problems, obesity, an increased susceptibility to infection, and a higher risk of childhood leukemia.

CLEFT LIP OR PALATE  Oral-facial clefts are birth defects in which the tissues of the mouth or lip don't form properly during fetal development. In the United States, clefts occur in 1 in 700 to 1,000 births, making it one of the most common major birth defects. Clefts occur more often in kids of Asian, Latino, or Native American descent.  The good news is that both cleft lip and cleft palate are treatable. Most kids born with these can have reconstructive surgery within the first 12 to 18 months of life to correct the defect and significantly improve facial appearance.

 The three common kinds of clefts are:  cleft lip without a cleft palate  cleft palate without a cleft lip  cleft lip and cleft palate together  Doctors don't know exactly why a baby develops cleft lip or cleft palate, but believe it may be a combination of genetic (inherited) and environmental factors (such as certain drugs, illnesses, and the use of alcohol or tobacco while a woman is pregnant).

 Thanks to medical advancements, reconstructive surgery can repair cleft lips and palates and, in severe cases, plastic surgery can address specific appearance-related concerns.

MUSCULAR DYSTROPHY  Muscular dystrophy (MD) refers to a group of genetic, hereditary muscle diseases that cause progressive muscle weakness.  Muscular dystrophies are characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue.

 There is no known cure for muscular dystrophy.  Physical therapy, Occupational therapy, speech therapy and orthopedic instruments (e.g., wheelchairs, standing frames) may be helpful.

PKU or PHENYLKETONURIA  Phenylketonuria (PKU) is an inherited disorder that affects about 1 in every 10,000 people: they cannot break down the protein from food in the usual way.  PKU leads to mental retardation if untreated.  PKU is one of the few genetic diseases that can be controlled by diet.

SICKLE-CELL ANEMIA  Sickle cell anemia is an inherited form of anemia — a condition in which there aren't enough healthy red blood cells to carry oxygen throughout your body.  In people with sickle cell anemia, the red blood cells become rigid and sticky and are shaped like sickles or crescent moons.

 These irregular-shaped blood cells die prematurely, resulting in a chronic shortage of red blood cells. Plus, they can get stuck when traveling through small blood vessels, which can slow or block blood flow and oxygen to certain parts of the body. This produces pain and can lead to the serious complications of sickle cell anemia.  There's no cure for most people with sickle cell anemia. However, treatments can relieve pain and prevent further problems associated with sickle cell anemia.

SPINA BIFIDA  Spina bifida is a neural tube defect caused by the failure of the fetus's spine to close properly during the first month of pregnancy.  Infants born with SB sometimes have an open lesion on their spine where significant damage to the nerves and spinal cord has occurred.

 Although the spinal opening can be surgically repaired shortly after birth, the nerve damage is permanent, resulting in varying degrees of paralysis of the lower limbs.

TAY-SACHS DISEASE  Tay-Sachs disease is a fatal genetic lipid storage disorder in which harmful quantities of a fatty substance build up in tissues and nerve cells in the brain.  Infants with Tay-Sachs disease appear to develop normally for the first few months of life.

 Then a relentless deterioration of mental and physical abilities occurs. The child becomes blind, deaf, and unable to swallow. Muscles begin to atrophy and paralysis sets in. Other neurological symptoms include dementia, seizures, and an increased startle reflex to noise.  The incidence of Tay-Sachs is particularly high among people of Eastern European and Askhenazi Jewish descent.

 Presently there is no treatment for Tay-Sachs disease. Even with the best of care, children with Tay- Sachs disease usually die by age 4, from recurring infection.

POLYDACTYLY & SYNDACTYLY  Polydactyly is the presence of more than the normal number of fingers or toes. the condition is usually inherited  Polydactyly can be corrected by surgical removal of the extra digit or partial digit.

 Syndactyly is the webbing or fusing together of two or more fingers or toes.  Syndactyly can also be corrected surgically, almost always with the addition of a skin graft from the groin.