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Edwards Syndrome

Edward Scissorhands
Picmonic
Edwards syndrome is the second most common autosomal trisomy observed in live births, and is due to the presence of all, or part of an extra copy of chromosome 18. The major phenotypic features include rocker bottom feet, micrognathia, low set ears, clenched hands with overlapping fingers and a prominent occiput. Congenital heart defects including ASDs, and VSDs are common in affected individuals. The gastrointestinal system is affected in about 75% of patients, with the most common abnormalities being Meckel's diverticulum and malrotation. 
13 KEY FACTS
PATHOPHYSIOLOGY
Trisomy 18
Tricycle (18) ID at Voting booth

Edwards syndrome is caused by the presence of a complete or partial extra copy of chromosome 18.

SIGNS AND SYMPTOMS
Intellectual Disability (Mental Retardation)
Read-tarred-book

Children with Edwards syndrome display significantly impaired cognitive functioning and deficits in two or more adaptive behaviors.

Rocker Bottom Feet
Rocking-chair with Rocker Bottom Feet

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 (VSD)
V-ventricle Scepter heart defect

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.

Clenched Hands
Clenched fist

Persistently flexed finger joints are a common physical finding in Edwards syndrome.

Overlapping Fingers
Overlapping Fingers

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
Low set ears

Low-set ears are a common physical finding in Edwards syndrome.

Micrognathia
Small-jaw with Micro-gnats

Micrognathia is a small jaw, which is a common physical finding in Edwards syndrome.

Prominent Occiput
Prominent Octopus

An enlarged protruding occiput is a common physical finding in Edwards syndrome.

Omphalocele
O-full-of-eels

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
Meckel-mouse Diver

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.

Horseshoe Kidney
Horseshoe Kidneys

Up to 20% of patients with Edwards syndrome have genitourinal defects, such as horseshoe kidney. Other defects include hydronephrosis and cystic kidneys.

Malrotation of Intestines
Mallet-rotating Intestines

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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