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Edward’s syndrome

Introduction:
The syndrome, named after Dr. John Edward, a chromosomal disorder caused by an error in cell division resulting on additional third chromosome 18, is known as Edward’s syndrome. Edward’s syndrome, a result of one of the genetic disorders and most common after Down syndrome, occurs in approximately one among 3000 to 6000 births.

Human body cells contain 23 pairs of chromosomes inherited from parents. Human reproductive cells, the sperm cells in male and ovum in females each have 23 individual chromosomes, known as XX in females and XY in males and number one through 22. If after fertilization the egg contains extra material from chromosome 18, will cause Edward’s syndrome.

Variation of Edward’s syndrome:
Trisomy 18: Majority of Edward’s syndrome falls in this category. In a situation, where all cells of individual contains additional chromosome 18, is known as trisomy 18.

Mosaic Trisomy 18: in mosaic trisomy 18, additional chromosome 18 may be present in some cells, but not in all the cells.

The physical problem associated with mosaic trisomy 18 may vary depending the additional 18 chromosomal proportions.

Translocation Trisomy 18: In this situation, the additional chromosome 18 may stuck to another chromosome or additional chromosome may be translocated resulting in no increase in the number of chromosomes from 46.

Symptomps of Edward’s syndrome:

Symptoms of  Edward’s syndrome may vary from infant to infant and includes

• Growth deficiency
• Developmental delays
• Mental retardation
• Feeding difficulties
• Breathing difficulties
• Small mouth
• Small head
• Undescended testicles in males
• Abnormal ears
• Small jaws
• Undeveloped thumbs
• Undeveloped nails
• Short breastbone
• Palpebral fissures
• Ocular hypertelorism
• Ptosis, clubfeet
• Kidney malformation
• Heart disease including ventricular septal defects, artrial septal defects.

Diagnosis of Edward’s disease in Preborn babies:

For chromosome study, intrauterine diagnosis amniocentisis is carried out. A fetal cell is collected during 14 –18 week of pregnancy and chromosome study is carried out.

Treatment:

Symptoms caused by Edward’s syndrome are manageable up to some extent, however there is no treatment for Edward’s syndrome. Edward’s syndrome may cause breathing and feeding difficulties and if proper assistance is offered to these babies, some of the babies may overcome these initial difficulties. Some children may have heart problem and difficulty in gaining weight. A perfect nutritional diet may be suitable for these children.

Survival:
The survival rate of infants having Edward’s syndrome is extremely low. Almost half the babies die before birth and a large percentage of infant’s dies within one year of birth. Most of the deaths are caused by heart abnormalities and apnea. There are reported cases of children living above 10 years of age.

Learning Disability

Types of Learning Disabilities

Cri Du Chat Syndrome

Down's Syndrome

Edward's Syndrome

Fragile X Syndrome

Homocystinuria

Hurler Syndrome

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Mental Retardation Causes

Mild Mental Retardation

Patau's Syndrome

Phenylketonuria

Tay Sachs Disease

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