When an infant has a birth defect that involves an opening in the abdomen, this is known as an abdominal wall abnormality or abdominal wall defect. Read more.
BWS is caused by changes in activity of genes that either suppress or promote growth of cells in the body. Common characteristics of BWS include enlarged tongue, large body size (or one side of the body being bigger than the other), omphalocele, and hypoglycemia. Read more.
A cleft is a division or separation of parts of the lip, or roof of the mouth that did not close during the early months of fetal life. The lip and palate are present; they just did not fuse together. Read more.
Clubfoot is a medical condition in which an infant’s foot or feet are turned inward, either to the side or almost facing upward. Read more.
Any unusual physical feature or health problem that is present at the birth of a baby is known as a birth defect or a congenital anomaly. Read more.
When a baby has craniosynostosis, however, one or more of the bones of the skull are joined together by bone prematurely, which may lead to problems depending on which, and how many sutures have closed early. Read more.
An encephalocele is a rare disorder where the bones of a fetus’s skull do not close all the way resulting in a space through which the tissues surrounding the brain and brain tissue itself bulges. Read more.
The femur is the bone that connects the hip to the knee. When the femur gets twisted inward while the baby is in the uterus, it causes femoral anteversion. Read more.
Gastroschisis and omphalocele are both part of a relatively uncommon group of birth defects that involve an opening or hole in the abdominal wall, frequently on the right side of the belly button. Read more.
Genetic diseases are conditions that occur due to a mutation in a gene ( a unit of hereditary ) in your body’s cells. Read more.
Common clinical characteristics are underdeveloped upper and lower jaw, underdeveloped facial muscles and surrounding bones, underdevelopment of the outer ear (microtia), ear tags, middle ear anomalies, hearing loss, vertebral anomalies. Read more.
Hemolytic disease of the newborn is a condition that occurs when a mother’s blood type is not compatible with her unborn fetus. Read more.
Hydrocephalus is primarily an excessive accumulation of fluid in the brain. This excess of cerebrospinal fluid accumulation causes the fluid spaces of the brain to enlarge. The cause is not well understood but can be congenital or acquired in nature. Read more.
Bilirubin is a yellow compound that forms when red blood cells are broken down. A newborn/premature baby breaks down their red cells faster and with a liver that's immature, cannot get rid of all the bilirubin produced. When this normally builds up, the baby's eyes and skin become yellow - this is called hyperbilirubinemia or jaundice. Read more.
Macroglossia, or enlargement of the tongue, is one of the hallmark features of BWS. It affects approximately 90 percent of children with BWS. Read more.
A mediastinal teratoma is a large mass that grows in the area between the two lungs. Read more.
A myelomeningocele is a bulge or sac of the fluid that surround the spinal cord. Read more.
A neural tube defect is a birth defect that occurs very early in the development of a fetus, often during the first month of pregnancy, where the brain, spinal cord and spinal column do not develop normally. Read more.
Common clinical characteristics of Pierre Robin Sequence are micrognathia (small lower jaw) or retrognathia (set back lower jaw), glossoptosis (displacement of the tongue to the back of the throat), cleft palate. Read more.
Skeletal dysplasias are disorders of the bone and cartilage that may affect the skeleton of a growing fetus. Read more.
Treacher Collins described two patients with features of this condition in 1900. Additional description of the condition was made by Franceschetti and Klein. They called the condition Mandibulofacial Dysostosis (abnormal bone formation of the face). Read more.
Vitamin k plays an important role in blood clotting (coagulation); particularly being associated with coagulation factors V11, 1X, and X. When there is a lack of Vit k blood doesn't clot and bleeding results. Read more.