Birth Defects and Craniosynostosis
Thousands of children every year suffer from birth defects. These include cleft lip and cleft palate, diaphragmatic hernia, Craniosynostosis, choanal atresia, and clubfoot. Each of these birth defects is caused by a different genetic or chromosomal abnormality.
Cleft lip and cleft palate
Thousands of children are born every year in the United States with orofacial clefts. These birth defects occur when the lip and palate do not fuse properly during fetal development. This can result in cavities, displaced teeth, and speech problems.
Clefts are the fourth most common birth defect in the United States. There are more clefts in children of Asian descent, and the incidence varies among different ethnic groups.
The incidence of cleft lip and cleft palate is one in every 1,700 babies born each year. Cleft lip and cleft palate occur more in males than in females. These birth defects are caused by genes passed from parents to children. Usually, a cleft lip is noticeable at birth, while a cleft palate can be hard to detect.
During the first exam, the health provider may notice that the lip and palate have a small notch in the upper lip. In some babies, the notch is larger, extending through the lip and up into the nose.
Craniosynostosis
Often, children with Birth Defects and Craniosynosis have issues with their body image. The condition can also lead to developmental delays and intellectual disabilities. Fortunately, there are services available to babies with craniosynostosis that can help them develop the skills they need for healthy living.
Craniosynostosis is an abnormality that occurs when the skull bones fuse together prematurely. The skull is made up of five bones, which are held together by fibrous material. When the skull is fused, the head will stop growing in the sutured area.
Craniosynostosis can be caused by genetics, environmental factors, or medical conditions. Some children with craniosynostosis may require surgery to correct their shape and size. These surgeries help to reshape the skull, allowing room for the brain to grow.
If a child has craniosynostosis, the baby will need regular checkups to monitor the condition. A doctor will also tell you if your baby needs special care to help with learning.
Diaphragmatic hernia
Symptoms of a diaphragmatic hernia include abdominal pain, especially when the abdominal contents protrude into the chest cavity. This is because the organs are not properly positioned in the chest. This can cause the baby to have high blood pressure and breathing difficulties.
There are two kinds of diaphragmatic hernias. One is an anterior defect (Morgagni hernia) and the other is a posterior defect (Bochdalek hernia).
The first type of diaphragmatic hernia is due to a defect in the diaphragm. The diaphragm is a large muscle that separates the chest from the abdomen. It is made of fibrous tissue. It begins to develop at four weeks of gestation and fully develops by 12 weeks.
The diaphragm is a vascular muscle that helps the baby breathe. A diaphragmatic defect can occur in the fetal diaphragm or in the diaphragm that develops later in life.
Endocardial cushion defect
During the early days of life, there are two major forms of birth defects that affect the heart: atrioventricular septal defect and endocardial cushion defect. These defects can cause shortness of breath, rapid breathing, sweating, and even cyanosis. The condition can be treated by surgery. However, there are times when these defects require multiple surgical procedures.
The most common type of endocardial cushion defect is a single opening or a single defect in the superior cushion of the AV canal. It results from the failure of the inferior cushion to fuse with the superior cushion. The defect can be associated with left AV valve disease or aortic arch abnormalities. The defect may also be accompanied by sweating, heart murmur, or failure to grow.
The other type of endocardial cushion defect is partial. Typically, these defects involve only the atria, but can also involve the ventricles. The defect can cause holes in the walls of the heart, allowing blood to mix. These defects are usually only noticeable during the early stages of life.
Gastroschisis
During pregnancy, an opening forms in the abdominal wall. This can be a small hole or a larger one. It is usually found on the right side of the belly button. When the opening forms, the intestines can protrude out of the body. This is a condition called gastroschisis.
This birth defect affects the way the bowel moves and absorbs nutrients. In addition, the bowel may become damaged. This condition may also cause breathing problems. It can be treated through surgery.
Gastroschisis is usually detected at about the 18 to 20-week mark of pregnancy. There is a high survival rate for infants born with this defect. A doctor will order ultrasounds to check the baby’s health. They can also order other tests.
An ultrasound may show that the baby’s bowel is outside the abdomen. The opening is usually about a couple of inches wide.
Epispadias
Having an Epispadias birth defect can lead to a lot of problems. The problem occurs when a child’s penis does not form a tube. It may also affect the bladder and urinary tract. This condition can lead to urinary incontinence and infertility.
Boys have a higher chance of developing epispadias than girls. This condition is also more common in Caucasian firstborn children.
Epispadias is diagnosed by a doctor at birth. It is also sometimes seen during ultrasound examinations. If a newborn has epispadias, the doctor will refer the patient to a pediatric urologist for further treatment.
After the diagnosis, additional tests are often performed to confirm the diagnosis. The tests may include urine tests, imaging studies, and X-rays. The tests will help determine the cause of the problem and determine whether it is affecting the bladder, labia, or urethra.
Cataracts and choanal atresia
Besides the fact that congenital cataracts and choanal atresia are birth defects, they also have associated complications. Some of these complications include failure to thrive, respiratory failure, and failure to reach developmental milestones. In addition, some children have hearing and vision deficits.
There are two basic types of atresia: unilateral and bilateral. When choanal atresia is unilateral, the infant may present with respiratory distress, nasal obstruction, and sinusitis. Usually, these patients have a history of crying, restlessness, or agitation. The type of atresia determines the success of the surgical repair. The success of the surgical procedure is also determined by the type of stent used for repair.
Surgical treatment of congenital choanal atresia can be challenging. However, mitomycin has proven to be an effective treatment. It improves the surgical outcome and reduces the occurrence of restenosis. However, it is not yet known whether topical adjuvant therapy can be helpful.
Clubfoot
Almost one in every one hundred newborns in the United States each year is born with clubfoot. The condition affects one or both feet and can cause pain. It can also interfere with walking.
There are many factors that increase the risk of clubfoot. Boys are twice as likely to develop the condition as girls. It is also more common in newborns who have a family history of the condition.
There are three main types of treatment for clubfoot. One is surgical. Surgery typically involves cutting the Achilles tendon to help improve the inward bend of the foot. Another is a splint or brace that is worn for a year or more.
The Ponseti method is a non-surgical method that involves stretching the foot to correct the deformity. This method uses a cast that is applied from the toe to the thigh. The cast is changed weekly until it is tight. This method is considered to be one of the most effective treatments for clubfoot.
Chromosome abnormalities
During the birth of a child, chromosomal abnormalities can cause significant physical and psychological issues. These conditions can affect the appearance and development of an individual and may require long-term support from a family and community.
The most common chromosomal abnormality is Down syndrome. It is characterized by learning problems, small stature, and mental disability. It affects approximately one in 800 babies.
Trisomy 13, trisomy 18, and Edwards syndrome are also types of chromosomal abnormalities. These disorders are usually hereditary. They occur when a baby is born with extra chromosomes or is missing a chromosome.
Chromosome abnormalities may also be the result of environmental factors such as maternal infections. These infections can cause birth defects and can also expose a baby to harmful radiation and pollutants.
Down syndrome and Edwards syndrome are caused by an extra copy of chromosome number 21. These disorders are often associated with heart defects and brain abnormalities.
Genetic abnormalities
Approximately 3% of infants are born with a birth defect, with some birth defects being more serious than others. Some of these birth defects can be diagnosed before birth, while others are more difficult to diagnose.
Some birth defects can be treated with medical interventions, but others require long-term treatment. These birth defects can be life-threatening, but many can be corrected with surgery and good follow-up care.
Birth defects can be caused by a variety of factors, including genetic abnormalities and environmental influences. They can also be caused by spontaneous mutations. There are three types of genetic abnormalities that can affect the development of a child: chromosomal abnormalities, single-gene defects, and multifactorial birth defects.
Chromosomal abnormalities occur when one or more chromosomes are missing, duplicated, or mutated. These changes can affect the functioning of a child’s brain and can cause delays in communication and learning.
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