Spina Bifida Spina Bifida What is spina bifida? Spina bifida is a condition in which there is abnormal development of the back bones, spinal cord, surrounding nerves, and the fluid-filled sac that surrounds the s...
Diaphragmatic Hernia Diaphragmatic Hernia What is a diaphragmatic hernia? A diaphragmatic hernia is a birth defect, which is an abnormality that occurs before birth as a fetus is forming in the mother's uterus. An openin...
Hernia (Umbilical/Inguinal) Hernia (Umbilical/Inguinal) What is a hernia? A hernia occurs when a section of intestine protrudes through a weakness in the abdominal muscles. A soft bulge is seen underneath the skin where the her...
Pyloric Stenosis Pyloric Stenosis What is pyloric stenosis? Pyloric stenosis is a problem that affects babies between birth and 6 months of age and causes forceful vomiting that can lead to dehydration. It is the sec...
Omphalocele Omphalocele What is an omphalocele? An omphalocele is a birth defect, which is an abnormality that occurs before birth as a fetus is forming in its mother's uterus. Some of the abdominal organs protr...
Anorectal Malformation Anorectal Malformation What is anorectal malformation? Anorectal malformations are birth defects (problems that happen as a fetus is developing during pregnancy). With this defect, the anus and rectu...
Down Syndrome (Trisomy 21) Down Syndrome (Trisomy 21) What are trisomies? The term trisomy is used to describe the presence of three chromosomes, rather than the usual matched pair of chromosomes. For example, if a baby is bor...
Trisomy 18 and 13 Trisomy 18 and 13 What are trisomies? The term trisomy is used to describe the presence of three chromosomes, rather than the usual pair of chromosomes. For example, if a baby is born with three #21 ...
Developmental Dysplasia of the Hip (DDH) Developmental Dysplasia of the Hip (DDH) What is DDH? Developmental dysplasia of the hip is a congenital (present at birth) condition of the hip joint. It occurs once in every 1,000 live births. The ...
Turner Syndrome Turner Syndrome What are monosomies? The term monosomy is used to describe the absence of one member of a pair of chromosomes. Therefore, there is a total of 45 chromosomes in each cell of the body, ...
Clubfoot Clubfoot What is clubfoot? Clubfoot, also known as talipes equinovarus, is a congenital (present at birth) foot deformity. It affects the bones, muscles, tendons, and blood vessels and can affect one...
Overview of Birth Defects Overview of Birth Defects What is a birth defect? A "birth defect" is a health problem or physical change, which is present in a baby at the time he or she is born. Birth defects may be very mild, wh...
Hydrocephalus Hydrocephalus What is hydrocephalus? Hydrocephalus is a condition in which there is excessive fluid in and around the brain. It occurs from a lack of absorption, blockage of flow, or overproduction o...
Hypospadias Hypospadias What is hypospadias? Hypospadias is a malformation that affects the urethral tube and the foreskin on a male's penis. The urethra is the tube that carries urine from the bladder to the ou...
Cleft Lip/Cleft Palate Cleft Lip/Cleft Palate What are cleft lip and cleft palate? Cleft lip and cleft palate are birth abnormalities of the mouth and lip. In the United States, nearly 6,800 babies are born with oral-facia...