Conditions We Treat
- Abdominal cyst
A cyst is an abnormal mass that is filled with fluid.
- Anorectal malformations
Anorectal malformations are birth defects that include of wide spectrum of abnormal development of the anal opening, rectum and associated nerves. that signal the body that it’s time to go to the bathroom do not develop properly. Learn more about the Colorectal and Pelvic Reconstructive Surgery Division.
- Cloacal malformations
Cloacal malformations is a rare type of anorectal malformation in little girls when there is incomplete separation of the urethra, vagina and rectum.
- Duodenal atresia
Duodenal atresia or stenosis occurs when the intestine does not develop normally and leads to a blockage in the intestines that connect to the stomach.
- Echogenic bowel
This can be found in antenatal ultrasound imaging. This refers to when the fetal bowel appears brighter than it is supposed to be.
Refers to a defect in the abdominal wall next to the umbilical cord that allows abdominal connects, usually bowel, outside of the body.
An omphalocele is a birth defect in which some of the abdominal organs protrude through an opening in the abdominal muscles into the umbilical cord.
- Other intestinal obstructions/atresias
Other areas of the intestines can also have blockages.
- Absent cavum septum pellucidum
Absent cavum septum pellucidum refers to those individuals where the thin membrane called the septum pellucidum is not developed in the middle part of the brain.
- Agenesis of the corpus callosum (ACC, callosal agenesis)
Agenesis of the corpus callosum (or partial ACC) occurs when the large bridge of fibers that connect the two halves of the brain, called the corpus callosum, did not form.
- Aqueductal stenosis
Aqueductal stenosis refers to a blockage in the plumbing system of the brain that can cause fluid to accumulate in the brain ventricles. It is the most common cause of congenital obstructive hydrocephalus.
- Blake pouch cyst
Blake’s pouch cyst is a cystic area of the posterior fossa (a small space in the skull near the brainstem) that can be a normal variation.
- Cerebellar hypoplasia
Cerebellar hypoplasia is a neurological condition in which the cerebellum is smaller than it should be.
- Dandy-Walker malformation
Dandy-Walker malformation is a congenital defect affecting the cerebellum, the back part of the brain that controls movement, behavior and cognitive ability.
This condition is the failure of the forebrain to divide normally.
Hydrocephalus is a condition in which there is excessive fluid in and around the brain.
- Inferior vermian hypoplasia
Isolated inferior vermian hypoplasia is a characterized by partial absence of the lower portion of the cerebellar vermis (the middle part of the cerebellum).
- Intraventricular hemorrhage
Intraventricular hemorrhage (IVH) is bleeding inside or around the ventricles in the brain.
Microcephaly is a condition where a baby's head is much smaller than normal.
Meningomyelocele (also known as myelomeningocele) is a type of spina bifida in which a there is a protrusion of membranes and spinal cord through a defect in the spinal column.
- Scoliosis/Vertebral anomalies
Scoliosis is a curvature in the spine that can be caused by abnormalities in the way the vertebrae are formed.
- Spina bifida
Spina bifida is also known as a neural tube defect. It can cause part of the spinal cord and vertebrae around it to form abnormally. Learn more about the Spina Bifida Program.
Fetal ventriculomegaly is a condition in which a fetus's brain ventricles (cavities) are enlarged.
- Aortic Valve Stenosis
Aortic valve stenosis occurs when a valve from the heart to the body does not properly open and close and may also leak blood. When the blood flowing out from the heart is trapped by a poorly working valve, pressure may build up inside the heart and cause damage. Stenosis (narrowing or obstruction) of the aortic valve makes the left ventricle pump harder to get blood past the blockage. Insufficiency (also called regurgitation) is when blood that's just been pumped through the valve leaks backwards into the pumping chamber between heartbeats. Some children can have mostly obstruction; others mostly insufficiency. Some children have a valve with both problems. Aortic stenosis (AS) occurs when the aortic valve didn't form properly. A normal valve has three parts (leaflets or cusps), but a stenotic valve may have only one cusp (unicuspid) or two cusps (bicuspid), which are thick and stiff, rather than thin and flexible.
- Atrial Septal Defect (ASD)
Atrial septal defect is a "hole" in the wall that separates the top two chambers of the heart. This defect allows oxygen-rich blood to leak into the oxygen-poor blood chambers in the heart. ASD is a defect in the septum between the heart's two upper chambers (atria). The septum is a wall that separates the heart's left and right sides.
- Atrioventricular Septal Defect (AVSD)
AVSD is also known as endocardial cushion defect, or complete or common atrioventricular canal (CAVC). A large hole in center of the heart affecting all four chambers where they would normally be divided. When a heart is properly divided, the oxygen-rich blood from the lungs does not mix with the oxygen-poor blood from the body. A CAVC allows blood to mix and the chambers and valves to not properly route the blood to each station of circulation.
- Coarctation of the Aorta (CoA)
Coarctation of the aorta is a narrowing of the major artery (the aorta) that carries blood to the body. This narrowing affects blood flow where the arteries branch out to carry blood along separate vessels to the upper and lower parts of the body. CoA can cause high blood pressure or heart damage.
- Double Outlet Right Ventricle
The aorta connects to the right ventricle (RV, the chamber of the heart that pumps oxygen-poor blood to the lungs), instead of to the left ventricle (LV, the chamber that normally pumps oxygen-rich blood to the body). Both the pulmonary artery (which carries oxygen-poor blood to the lungs) and aorta (which carries oxygen-rich blood from the heart to the body) come from the same pumping chamber. No arteries are connected to the left ventricle (the chamber that normally pumps blood to the body).
- Double Inlet Right Ventricle
Double inlet left ventricle (DILV) is a heart defect that is present from birth (congenital). It affects the valves and chambers of the heart. Babies born with this condition have only one working pumping chamber (ventricle) in their heart.
- d-Transposition of the Great Arteries
d-Transposition of the great arteries refers to a heart in which the two main arteries carrying blood away from the heart are reversed. A normal blood pattern carries blood in a cycle: body-heart-lungs-heart-body. When a d-transposition occurs, the blood pathway is impaired because the two arteries are connecting to the wrong chambers in the heart. This means that the blood flow cycle is stuck in either:
Without surgery, the only way to survive this condition temporarily is to have leakages that allow some oxygen-rich blood to cross into the oxygen-poor blood for delivery to the body. A hospital facility can also catheterize a patient until corrective surgery can be performed.
- Body-heart-body (without being routed to the lungs for oxygen), or
- Lungs-heart-lungs (without delivering oxygen to the body).
- Ebstein’s Anomaly
Ebstein's anomaly is a malformed heart valve that does not properly close to keep the blood flow moving in the right direction. Blood may leak back from the lower to upper chambers on the right side of the heart. This syndrome also is commonly seen with an atrial septal defect or ASD (or a hole in the wall dividing the two upper chambers of the heart).
- Fetal Arrhythmias
The normal fetal heart rate ranges between 110 and 160 beats per minute. Fetal arrhythmias occur when the fetal heart range is abnormal with an irregular rhythm or higher than the normal range.
Heterotaxy is defined by having internal organs that are not arranged as usual in the chest and abdomen. This can cause organs like the heart, lungs, liver, intestines and spleen to not work correctly. There are many causes of heterotaxy and mutations in over 60 genes have been associated with the disease showing various patterns of inheritance. Other times, heterotaxy is not inherited and could be caused by exposure to a toxin or chemical during pregnancy.
- Hypoplastic Left Heart Syndrome (HLHS)
Hypoplastic left heart syndrome is an underdeveloped left side of the heart. The aorta and left ventricle are too small and the holes in the artery and septum did not properly mature and close.
- l-Transposition of the Great Arteries
l-Transposition of the great arteries is a heart in which the lower section is fully reversed. This malformation of the heart causes a reversal in the normal blood flow pattern because the right and left lower chambers of the heart are reversed. The I-transposition, however, is less dangerous than a d-transposition because the great arteries are also reversed. This "double reversal" allows the body to still receive oxygen-rich blood and the lungs to still receive the oxygen-poor blood.
- Mitral Valve Stenosis
Stenosis is a tightening or narrowing of the valve. Because the valve is constricted, blood cannot easily get through it to the left ventricle. As a result, blood backs up in the left atrium causing the LA to enlarge. This, in turn, causes further backup of blood in the lungs, which may cause difficulty breathing. The increased blood in the lungs may elevate the lung pressure, called pulmonary hypertension. Without intervention, the right side of the heart can also become enlarged trying to pump blood to the already saturated lungs.
- Patent Ductus Arteriosus (PDA)
Before a baby is born, the fetus's blood does not need to go to the lungs to get oxygenated. The ductus arteriosus is a hole that allows the blood to skip the circulation to the lungs. However, when the baby is born, the blood must receive oxygen in the lungs and this hole is supposed to close. If the ductus arteriosus is still open (or patent) the blood may skip this necessary step of circulation. The open hole is called the patent ductus arteriosus.
- Patent Foramen Ovale (PFO)
Occurs after birth when the foramen ovale fails to close. The foramen ovale is a hole in the wall between the left and right atria of every human fetus. This hole allows blood to bypass the fetal lungs, which cannot work until they are exposed to air. When a newborn enters the world and takes its first breath, the foramen ovale closes and within a few months it has sealed completely in about 75% of us. When it remains open, it is called a patent foramen ovale ("Patent" means open). For the vast majority of the millions of people with a PFO, it is not a problem, even though blood is leaking from the right atrium to the left. Problems can arise when that blood contains a blood clot.
- Pulmonary Valve Stenosis
Pulmonary valve stenosis is a thickened or fused heart valve that does not fully open. The pulmonary valve allows blood to flow out of the heart, into the pulmonary artery and then to the lungs.
- Pulmonary Atresia/Intact Ventricular Septum
Pulmonary atresia is when the pulmonary valve does not exist, and the only blood receiving oxygen is the blood that is diverted to the lungs through openings that normally close during development.
- Right Aortic Arches
These occur when the aortic arch crosses over the right bronchus instead of the left bronchus. Occurring in 0.01 to 0.1% of the general population, these anomalies do not directly cause any cardiovascular issues, but are sometimes associated with congenital heart defects, vascular rings, and chromosomal abnormalities such as DiGeorge syndrome.
- Single Ventricle Defects
Single ventricle defects are rare disorders affecting one lower chamber of the heart. The chamber may be smaller, underdeveloped or missing a valve.
- Tricuspid Atresia
Tricuspid atresia is when there is no tricuspid valve in the heart, so blood cannot flow from the body into the heart in the normal way. The blood is not being properly refilled with oxygen so it does not complete the normal cycle of body-heart-lungs-heart-body.
- Tetralogy of Fallot
Tetralogy of Fallot is a heart defect that features four problems. They are:
- A hole between the lower chambers of the heart
- An obstruction from the heart to the lungs
- The aorta (blood vessel) lies over the hole in the lower chambers
- The muscle surrounding the lower right chamber becomes overly thickened
- Total Anomalous Pulmonary Venous Connection (TAPVC)
Total anomalous pulmonary venous connection or return is a defect in the veins leading from the lungs to the heart. In TAPVC (or TAPVR), the blood does not take the normal route from the lungs to the heart and out to the body. Instead, the veins from the lungs attach to the heart in abnormal positions and this problem means that oxygenated blood enters or leaks into the wrong chamber.
- Truncus Arteriosus
When a person has one large artery instead of two separate ones to carry blood to the lungs and body. In a normal heart, the blood follow this cycle: body-heart-lungs-heart-body. When a person has a truncus arteriosus, the blood leaving the heart does not follow this path. It has only one vessel, instead of two separate ones for the lungs and body. With only one artery, there is no specific path to the lungs for oxygen before returning to the heart to deliver oxygen to the body.
- Ventricular Septal Defect (VSD)
VSD is a hole in the wall separating the two lower chambers of the heart. In normal development, the wall between the chambers closes before the fetus is born, so that by birth, oxygen-rich blood is kept from mixing with the oxygen-poor blood. When the hole does not close, it may cause higher pressure in the heart or reduced oxygen to the body.
- Cystic fibrosis
Cystic fibrosis is genetic disease that affects the lungs and digestive system. Learn more about the Cystic Fibrosis Center.
- Deletion/duplication syndromes
These are genetic conditions caused by having an extra or missing piece of a chromosome.
- Down syndrome
Down syndrome, also called Trisomy 21, is a chromosomal condition caused by having an extra copy of chromosome 21. Learn more about the Down Syndrome Clinic.
- Fragile X
Fragile X is a genetic condition that can cause a range of learning and behavioral problems.
- Metabolic disorders
Learn more about the Inherited Metabolic Disorders Program.
- Sex chromosome aneuploidies
These are genetic conditions that occur when an individual is born with an extra or missing sex chromosome. For example: Klinefelter syndrome (47, XXY), Turner syndrome (45, X), XXX. Learn more about the Turner Syndrome Clinic.
- Skeletal dysplasia
Skeletal dysplasia describes a category of rare genetic disorders that affect bones and joints and hinder children’s growth and development. Children with skeletal dysplasia often have limbs that are too short compared with the rest of the body. For example, achondroplasia is the most common skeletal dysplasia. Learn more about the Skeletal Dysplasia Clinic.
- Spinal muscular atrophy and other neuromuscular conditions
Learn more about the Neuromuscular Medicine Program.
- Sickle cell disease and other hemoglobinopathies
Learn more about the Comprehensive Sickle Cell Disease Program.
- Trisomy 13
Trisomy 13 is a chromosomal condition caused by having an extra copy of chromosome 13.
- Trisomy 18
Trisomy 18 is a chromosomal condition caused by having an extra copy of chromosome 18.
- Increased nuchal translucency
Increased nuchal translucency is thought to be related to dilated lymphatic channels and is considered a marker of increased risk for fetal abnormalities.
- Cystic hygroma
A cystic hygroma is a dilated area in the back of the fetal neck, often with membranes that can be seen on ultrasound. It can be associated with other health problems.
- Anophthalmia/Microphthalmia/Other eye anomalies
Anophthalmia refers to when an eye does not develop at all. Microphthalmia refers to an eye that is smaller than normal.
- Cleft lip with/without cleft palate
A cleft lip happens if the tissue that makes up the upper lip does not join completely before birth. Cleft palate occurs when the roof of the mouth does not form completely, resulting in an opening. Learn more about the Craniofacial Program.
Micrognathia is a term for a lower jaw that is smaller than normal.
- Esophageal atresia with/without tracheoesophageal fistula
Esophageal atresia is a term for a blockage in the tube that connects the mouth to the stomach. Tracheoesophageal fistula occurs when there is a connection between the tube that goes from the mouth to the stomach (esophagus) and the tube that goes form the mouth to the lungs (trachea).
- Bladder exstrophy
Exstrophy of the bladder is when a baby’s bladder has grown inside out and is sticking out through the belly wall. Epispadias is when the opening of the tube that carries urine out of the body (the urethra) is in the wrong place.
- Duplex (duplicated) collecting system
This condition is characterized by an incomplete fusion of upper and lower pole moieties resulting in a variety of complete or incomplete duplications of the collecting system most commonly with two ureters coming from a single kidney.
- Echogenic kidney
This occurs when the kidneys appear brighter than normal on prenatal imaging. It can be associated with kidney differences and genetic disorders in some babies.
Hydronephrosis means that the kidneys accumulate more urine than is typical.
This condition is a dilation of the ureter.
- Multicystic dysplastic kidney (MCDK)
Kidney dysplasia is a condition in which the internal structures of one or both of a fetus’ kidneys do not develop normally. Fluid-filled sacs called cysts replace normal kidney tissue and prevent the kidney from functioning.
- Polycystic kidney disease
Polycystic kidney disease (PKD) is an inherited kidney disease that causes the kidneys to develop cysts and get larger with decreased function over time.
- Posterior urethral valves (PUV)
Posterior urethral valves is an abnormality of the urethra in which the urethral valves have a narrow, slit-like opening that partially impedes urine outflow most commonly in boys.
Fetal pyelectasis refers to a prominence of the renal pelvis in utero.
- Renal agenesis
Renal agenesis is defined as the absence of one or both kidneys.
A ureterocele is a birth defect that affects the kidney, ureter and bladder in which the portion of the ureter closest to the bladder swells up like a balloon and the ureteral opening is often very tiny and can obstruct urine flow.
- Ureteropelvic junction (UPJ) obstruction
Ureteropelvic junction obstruction is a blockage in the area that connects the renal pelvis to the ureter, one of the tubes that move urine to the bladder.
- Vesicoureteral reflux
Vesicoureteral reflux (VUR) occurs when urine in the bladder flows backwards into the ureters and kidneys.
- Bronchopulmonary sequestration (BPS, cystic lung lesion)
BPS is a type of CPAM that occurs when lung tissue forms but is not connected to the normal bronchial airway system. Unlike CCAMs, a BPS receives oxygenated blood from the body’s circulation coming from the aorta (main artery from the heart).
- Congenital cystic adenomatoid malformation (CCAM)
A CCAM is a type of CPAM caused by overgrowth of abnormal lung tissue and usually contains fluid-filled cysts. The cysts prevent the lung tissue from functioning normally.
- Congenital diaphragmatic hernia (CDH)
A congenital diaphragmatic hernia (CDH) is a birth defect that causes a hole in the diaphragm.
- Congenital pulmonary airway malformation (CPAM)
These malformations are masses of abnormal lung tissue with abnormal bronchial growth.
Arthrogryposis describes a group of congenital disorders that cause joint and muscle deformities.
Clubfoot, also known as talipes equinovarus, is a congenital foot deformity. The foot is usually short and broad in appearance and the heel points downward while the front half of the foot turns inward.
- Ectrodactyly and other hand and upper extremity abnormalities
Learn more about the Hand Program.
Polydactyly is a condition in which a person has more than five fingers per hand or five toes per foot.
This is a condition marked by webbing of two or more fingers or toes and sometimes bony fusion of adjacent digits.
- Abnormal prenatal genetic screening/testing results
Blood testing or diagnostic genetic testing results in pregnancy that come back abnormal.
- Amniotic bands
Strands of the amniotic sac that can cause abnormalities in different parts of the fetus.
- Congenital infections
Congenital infections can be caused by a virus or bacteria that pass to the baby during pregnancy. Learn more about the Congenital Infection Program.
- Hemangioma, vascular malformations and lymphatic malformations
Learn more about the Vascular Anomalies Clinic.
Hydrops fetalis is severe swelling (edema) in an unborn baby or a newborn baby.
- Intrauterine growth restriction
When the fetus fails to grow at the expected rate during the pregnancy.
This condition refers to when there is too little amniotic fluid surrounding a baby in the womb.
This condition refers to when there is too much amniotic fluid surrounding a baby in the womb.
A teratoma is a congenital (usually benign) tumor formed by different types of tissue.
- Two vessel cord (single umbilical artery)
This condition results when there is a congenital absence of either the right or left umbilical artery. This can be isolated or associated with cardiac disease or other anomalies.