Edwards syndrome is caused by the presence of a complete or partial extra copy of chromosome 18.
Children with Edwards syndrome display significantly impaired cognitive functioning and deficits in two or more adaptive behaviors.
Rocker bottom feet are characterized by a prominent calcaneus and a rounded bottom of the foot, resembling the bottom of a rocking chair.
Ventricular septal defect is a congenital heart defect that enables blood to flow between the left and right ventricle. VSDs are common in children with Edwards syndrome. Other congenital heart defects may occur like PDA, ASD, and ToF. However, VSD is most common.
Persistently flexed finger joints are a common physical finding in Edwards syndrome.
Patients with Edwards syndrome often exhibit overlapping fingers. Hands can present with overlapping digits, in which the second and fifth fingers sit atop the third and fourth fingers, respectively.
Low-set ears are a common physical finding in Edwards syndrome.
Micrognathia is a small jaw, which is a common physical finding in Edwards syndrome.
An enlarged protruding occiput is a common physical finding in Edwards syndrome.
Omphalocele is associated with Edwards syndrome. This is an abdominal wall defect leading to the intestines, liver and sometimes other organs extruding out of the abdomen, while being contained in a peritoneal sac. This occurs at the midline and the outpouching occurs at the navel.
Meckel's diverticulum is a common gastrointestinal defect associated with Edwards syndrome. This is a vestigial remnant of the vitelline duct, and is described as a slight bulge in the small intestine.
Up to 20% of patients with Edwards syndrome have genitourinal defects, such as horseshoe kidney. Other defects include hydronephrosis and cystic kidneys.
Malrotation of the intestine is a congenital anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis. Occurance of this anomaly is believed to be due to hereditary factors, or an underlying genetic disorder, such as Edwards syndrome.
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