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.
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.
The tissues that make up the lip and palate (roof of the mouth) fuse together between the fourth and twelfth weeks of pregnancy.
CLOVES syndrome is a very rare congenital disorder that is characterized by the presence of several problems together.
Clubfoot is a medical condition in which an infant’s foot or feet are turned inward, either to the side or almost facing upward.
Any problem with the hands that develops in a fetus while it’s still in the uterus is known as a congenital hand malformation.
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.
Any kind of problem with how an arm or leg develops in the fetus can be classified as a congenital limb defect.
CPAM is a congenital abnormality usually of one lung where a whole lobe of the lung is replaced by a non-working cystic (non- cancerous tumor filled with fluid) piece of abnormal lung tissue which will never work.
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.
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.
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.
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.
Genetic diseases are conditions that occur due to a mutation in a gene ( a unit of hereditary ) in your body’s cells.
If a baby is born with the tissue on one side of the face underdeveloped, this is known as hemifacial microsomia.
Hemolytic disease of the newborn is a condition that occurs when a mother’s blood type is not compatible with her unborn fetus.
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.
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.
Macroglossia, or enlargement of the tongue, is one of the hallmark features of BWS. It affects approximately 90 percent of children with BWS.
A mediastinal teratoma is a large mass that grows in the area between the two lungs.
A myelomeningocele is a bulge or sac of the fluid that surround the spinal cord.
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.
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), and airway obstruction leading to difficulty with breathing.
A sacrococcygeal teratoma is a tumor containing a number of different tissues (fat, bone, nerves etc.) that is present at birth in the tailbone (coccyx) of the newborn baby.
Skeletal dysplasias are disorders of the bone and cartilage that may affect the skeleton of a growing fetus. Skeletal dysplasias occur in approximately 1 in every 4,000 births.
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).
Twin reversed arterial perfusion is a rare disorder that sometimes occurs in identical twins that share a placenta, where one twin has a poor functioning cardiac system receives blood from the healthy twin.
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.