An absence of the skull, with cerebral hemispheres completely missing or reduced to small masses attached to the base of the skull. Anencephaly is not compatible with life.

Anophthalmia

The complete absence of the eyes, or the presence of vestigial eyes.

Microphthalmia

Abnormal smallness of one or both eyes, which can occur with other ocular defects.

Anotia

The absence of one or both ears.

Microtia

A small or maldeveloped external ear.

A cardiac anomaly characterized by a narrowing or stricture of the aortic valve. This condition causes abnormal cardiac circulation and pressure in the heart during contractions. This condition can be repaired surgically in some cases.

A cardiac defect in which there are one or several openings in the atrial septum (muscular and fibrous wall between the right and left atria) allowing a mixing of oxygenated and unoxygenated blood. The openings vary in size and can resolve without treatment or might require surgery.

An absence or underdevelopment of one or more of the ducts in the biliary tract. Correctable by surgery.

Incomplete closure of the anterior wall of the bladder and the abdominal cavity. The upper urinary tract is generally normal. Often associated with anorectal and genital defects, and epispadias. This condition is usually corrected by surgery after birth.

An anomaly in which a bony or membranous formation blocks the passageway between the nose and the pharynx. This defect is usually repaired surgically after birth. Bilateral Choanal Atresia is a surgical emergency.

Cleft lip

The failure of the fetal components of the lip to fuse or join, forming a groove or fissure in the lip. Infants with this condition can have difficulty feeding, and may use assistive devices for feeding. This condition is corrected when the infant can tolerate surgery.

Cleft palate

The failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. This defect varies in degree of severity. The fissure can extend into the hard and soft palate and into the nasal cavities. Infants with this condition have difficulty feeding, and may use assistive devices for feeding. Surgical correction is begun as soon as possible. Children with cleft palates are at high risk for hearing problems due to ear infections.

The congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. This defect varies in degree of severity. The fissure can extend into the hard and soft palate and into the nasal cavities. Infants with this condition have difficulty feeding, and need assistive devices for feeding. Surgical correction is begun as soon as possible. Children with cleft palates are at high risk for hearing problems due to ear infections.

An abnormality consisting of plantar flexion (downward pointing of the foot and toes), inversion (varus, or internal rotation), and metatarsus adductus (deviation of the forefoot toward the body) of the foot. An abnormally high arch (pes cavus) and midfoot flexion crease usually are also present.

Localized narrowing of the aorta. This condition causes abnormal cardiac circulation and pressure in the heart during contractions. This condition can vary from mild to severe. Surgical correction is recommended even for mild defects.

A congenital heart defect in which the common arterial trunk fails to divide into pulmonary artery and aorta. This is corrected surgically.

An opacity (clouding) of the lens of the eye.

Posterior urethral valves (PUV) are tissue folds of the posterior urethra and function as valves obstructing urine outflow. Congenital PUV is an abnormal congenital obstructing membrane that is located within the posterior male urethra; this valve is the most common cause of bladder outlet obstruction in male children. Congenital PUV can also be found in virilized females and rarely in normal females. Obstruction could vary from mild to severe.

The premature closure of one or more of the fibrous joints between the bones of the skull (called the cranial sutures) before brain growth is complete. This condition is occasionally associated with other skeletal defects. If no surgical correction is made, the growth of the skull is inhibited, and the head is deformed. The eyes and the brain are often damaged.

Chromosome abnormality resulting from genomic microdeletions within a critical region on the long arm of chromosome 22 (22q11.2). Phenotype can include cardiac abnormalities, abnormal or dysmorphic facial features, thymic aplasia, cleft palate or velopharyngeal insufficiency, or hypocalcemia due to hypoparathyroidism.

A failure of the diaphragm to form completely, leaving a hole. Abdominal organs can protrude through the hole into the chest cavity and interfere with development of the heart and lungs. Usually life-threatening and requires surgery.

Both the pulmonary artery and the aorta arise from the right ventricle, usually accompanied by a ventricular septal defect (VSD).

The chromosomal abnormality characterized by an extra copy of chromosome 21. Down Syndrome is characterized by moderate to severe mental retardation, sloping forehead, small ear canals, flat bridged nose and short fingers and toes. Affected people can survive to middle or old age.

A heart defect in which the tricuspid valve is displaced downward into the right ventricle causing abnormal patterns of cardiac circulation.

The chromosomal abnormality characterized by an extra copy of chromosome 18. Edwards syndrome is characterized by mental retardation, neonatal hepatitis, low-set ears, skull malformation and short digits. Cardiac and renal anomalies are also common. Survival for more than a few months is rare.

The protrusion of the brain substance through a defect in the skull.

A variety of septal defects (malformations of the walls separating the two atria and two ventricles of the heart) resulting from imperfect fusion of the endocardial cushions in the embryonic heart.

Esophageal Atresia

A narrowing or incomplete formation of the esophagus. Frequently associated with a Tracheoesophageal Fistula.

Tracheoesophageal Fistula

Is an abnormal passage between the esophagus and trachea and leads to pneumonia.

Both conditions are corrected surgically.

An opening of the abdominal wall with protrusion of the intestines. This condition is surgically treated.

The left side of the heart— including the aorta, aortic valve, left ventricle and mitral valve—is underdeveloped. This condition can be surgically repaired in a series of three procedures over a period of one year. Transplantation is also a treatment. This condition is usually fatal in the first month of life if not treated.

A congenital defect in which the urinary outlet is on the underside of the penis or on the perineum (area between the genitals and the anus). The urinary sphincters are not defective so incontinence does not occur. The condition may be surgically corrected if needed for cosmetic, urologic, or reproductive reasons. The corresponding defect in women is rare.

Failure of the brain to develop into two equal halves, so there is structural abnormality of the brain. There may be associated midline facial defects including cyclopia (fusion of the eye orbits into a single cavity containing one eye) in severe cases. About half the cases are probably due to a single gene defect (the HPE gene). Frequently occurs with Trisomy 13.

The complete loss of communication (interruption) between the ascending and descending aorta, usually associated with a malalignment-type ventricular septal defect (VSD).

The absence of a portion of the lower limb. There are two general types of defect, transverse and longitudinal. Transverse defects appear like amputations, or like missing segments of the limb. Longitudinal defects are missing rays of the limb (for example, a missing tibia and great toe).

The protrusion of an organ into the umbilicus. The defect is usually closed surgically soon after birth.

The chromosomal abnormality caused by an extra chromosome 13. The extra copy can be free-lying, or can be attached to some other chromosome. Patau syndrome can occur in mosaic so that there is a population of normal cells and a population of trisomy 13 cells. Patau syndrome is characterized by impaired midline facial development, cleft lip and palate, polydactyly and mental deficiency. Most infants do not survive beyond 6 months of life.

Pulmonary valve atresia

Lack of patency, or failure of formation altogether, of the pulmonary valve, resulting in obstruction of blood flow from the right ventricle to the pulmonary artery.

Pulmonary valve stenosis

Obstruction or narrowing of the pulmonary valve, which may impair blood flow from the right ventricle to the pulmonary artery.

The absence, closure or constriction of the large intestine, rectum or anus. Can be surgically corrected or bypassed.

Read more from:

• Minnesota Department of Health

Renal Agenesis or Dysgenesis.

The failure, or deviation, of embryonic development of the kidney.

Hypoplasia.

A condition of arrested development in which an organ or part remains below the normal size or in an immature state.

A condition in which both atrioventricular valves separately enter a single ventricular cavity.

Read more from:

• Medscape

Complete or partial blockage of the lumen of one or more segments of the small intestine.

Read more from:

• Minnesota Department of Health

A neural tube defect resulting from failure of the spinal neural tube to close. This usually results in damage to the spinal cord with paralysis of the involved limbs. Includes myelomeningocele (involving both spinal cord and meninges) and meningocele (involving just the meninges).

A cardiac anomaly consisting of four defects: ventricular septal defect, pulmonary valve stenosis or atresia, displacement of the aorta to the right, and hypertrophy of right ventricle. The condition is corrected surgically.

A heart defect that occurs when the vessels that bring oxygen-rich blood back to the heart from the lungs are improperly connected.

A defect in which the aorta arises from the right ventricle and the pulmonary artery from the left ventricle (opposite of normal), so that the venous return from the peripheral circulation is recirculated without being oxygenated in the lungs. Immediate surgical correction is needed.

A cardiac condition characterized by the absence or constriction of the tricuspid valve. The opening between the right atrium and right ventricle is absent or restricted, and normal circulation is not possible. This condition is often associated with other cardiac defects. This condition is surgically corrected depending on the severity.

A chromosomal abnormality characterized by the absence or structurally abnormal second X chromosome in a phenotypic female. Turner syndrome is characterized by body edema, low hairline, low-set ears, down slanted eyes, loose neck skin and puffy hands and feet. Additional birth defects including congenital heart defects and kidney defects are also common.

A congenital cardiac malformation in which there are one or several openings in the ventricular septum (muscular and fibrous wall between the right and left ventricle or right and left lower chambers of the heart) allowing a mixing of oxygenated and unoxygenated blood. The openings vary in size and may resolve without treatment or require surgical treatment