Table 2 Clinical description of the disease-related anomalies.

Absent corpus callosum

A congenital brain defect with partial or complete absence of the region that connects the two cerebral hemispheres.

Atrial septal defect

A congenital heart defect resulting from incomplete atrial septation.

Atrioventricular septal defect

A congenital heart defect resulting from incomplete septation of the atrioventricular canal.

Bicuspid aortic valve

A congenital heart defect in which the aortic valve has only two leaflets instead of the normal three.

Caudal vertebrae dysplasia

A congenital defect of a total or partial failure of the development of the caudal vertebrae.

Coarctation of the aorta

A congenital heart defect in which blood flow is blocked by aortic narrowing usually at the region of the ductus arteriosus.

Coronal synostosis

A congenital skull defect in which the coronal suture close prematurely leading to flattening of the head (unicoronal), or a short head with wide appearance (bicoronal).

Dilated cardiomyopathy

A condition in which the heart becomes enlarged and cannot pump blood effectively.

D-loop

Refers to the normal rightward (dextro = D) loop or bend of the embryonic heart tube and indicates that the inflow portion of the right ventricle is to the right of the morphological left ventricle.

Frontal bossing

A condition indicating a protuberance of the frontal bones of the forehead.

Hypoplastic left heart syndrome

A congenital heart defect in which the heart’s left side (including the aorta, aortic valve, left ventricle and mitral valve) is underdeveloped.

Macrocephaly

A condition in which circumference of the head is more than two standard deviations above the mean value for a given age and gender.

Metopic synostosis

A congenital skull defect in which the metopic suture close prematurely leading to a forehead with triangular appearance (trigonocephaly).

Microcephaly

A condition in which circumference of the head is more than two standard deviations below the mean value for a given age and gender.

Mitral/pulmonary/tricuspid/aortic valve regurgitation

A condition in which the valve does not close properly, allowing blood to flow backwards. Regurgitation is also called insufficiency or incompetence.

Patent ductus arteriosus

A congenital heart defect in which the ductus arteriosus fails to close after birth.

Patent foramen ovale

A congenital heart defect in which the foramen ovale did not close properly at birth, with the result of an existing hole between the left and right atria of the heart.

Plagiocephaly

A condition in which the skull flattens on one side.

Polydactyly

A congenital skeletal condition in which an individual has more than 5 fingers per hand or 5 toes per foot.

Premature fusion of the anterior fontanel

A congenital skull defect in which the anterior fontanel close prematurely.

Radioulnar synostosis

A congenital defect in which the radius and ulna of the forearm is abnormally connected (synostosis).

Sagittal synostosis

A congenital skull defect in which the sagittal suture close prematurely leading to a long and narrow head (scaphocephaly).

Sinus venosus septal defect

A congenital heart defect in which a deficiency of the common wall between the superior vena cava and the right upper pulmonary vein is present thereby allowing shunting of blood from the systemic to the pulmonary circulation.

Stenotic left main coronary artery

A condition in which the left main coronary artery is narrowed.

Stenotic pulmonary valve

A condition in which the pulmonary valve is narrowed.

Tetralogy of Fallot

A congenital heart defect characterised by right ventricular outflow tract obstruction, right ventricular hypertrophy, ventricular septal defect and overriding aorta.

Thoracic aortic aneurysm

A condition in which the aortic diameter is more than two standard deviations above the mean value for a given age and gender.

Transposition of the Great Arteries

A congenital heart defect referring to ventriculoarterial discordance, i.e., aorta arises from a morphological right ventricle, and the pulmonary artery arises from a morphological left ventricle.

Vascular ring

A congenital heart defect in which the aorta or its branches forms a ring around the trachea and the oesophagus.

Ventricular septal defect

A congenital heart defect resulting from incomplete ventricular septation.

Ventriculomegaly

A condition in which the brain ventricles are abnormally enlarged.