Wolf-Hirschhorn syndrome


Wolf-Hirschhorn Syndrome

Description:

ICD-9: 758.3.

Abbreviation: WHS.

Alternative Names: 4p-syndrome or deletion 4p syndrome, Wolf syndrome.

A normal human karyotype consists of 23 pairs of chromosomes. Each pair is numbered 1 through 22 and the twenty-third pair are the sex chromosomes. On each chromosome are hundreds of genes that determine how our bodies look and function. WHS is a contiguous gene syndrome. A contiguous gene syndrome occurs when a chromosome is either missing material (deletion) or has extra material (duplication) of several genes in the same region of the chromosome.

Wolf-Hirschhorn Syndrome was first described in 1961 by Herbert L. Cooper and Kurt Hirschhorn. Wolf-Hirschhorn syndrome is the result of a genetic error caused by a missing part (deletion) of the short arm of chromosome 4. Wolf-Hirschhorn syndrome affects females more frequently than males, and occurs in people of all ethnic backgrounds. It is estimated to occur in 1 in 50,000 births.

Symptoms:

Symptoms May Include:

    Profound mental retardation, small head, seizures, low muscle tone, poor muscle development.

  • Prominent forehead, wideset eyes, and broad beaked nose.

  • Very short stature, facial deformities, malformations of hands and feet, chest, and spine.

  • Heart defects.

  • Malformations or underdevelopment of organs.

People with Wolf-Hirschhorn syndrome experience delayed growth and development. Slow growth begins before birth, and affected infants tend to have problems feeding and gaining weight. They also have weak muscle tone (hypotonia) and underdeveloped muscles. Motor skills, such as sitting, standing, and walking, are significantly delayed. Most children and adults with this disorder also have short stature.

Wolf-Hirschhorn syndrome

Causes and Risk Factors:

Wolf-Hirschhorn syndrome is caused by a deletion of genetic material of chromosome 4. This chromosomal change is sometimes written as 4p-. The size of the deletion varies among affected individuals. Studies suggest that larger deletions tend to result in more severe intellectual disability and physical abnormalities than smaller deletions.

WHSC1, LETM1, and MSX1 are the genes that are deleted in people with the typical signs and symptoms of this disorder. These genes play significant roles in early development, although many of their specific functions are unknown. Researchers believe that loss of the WHSC1 gene is associated with many of the characteristic features of Wolf-Hirschhorn syndrome, including the distinctive facial appearance and developmental delay. Deletion of the LETM1 gene appears to be associated with seizures or other abnormal electrical activity in the brain. A loss of the MSX1 gene may be responsible for the dental abnormalities and cleft lip and/or palate that are often seen with this condition.

Scientists are working to identify additional genes at the end of the short arm of chromosome 4 that contribute to the characteristic features of Wolf-Hirschhorn syndrome.

Diagnosis:

The incidence of this condition is rare and estimated to be approximately one in 50,000 births. However, as with many genetic conditions, the condition may be misdiagnosed or may not be diagnosed in all individuals who are affected, especially if the condition results in pregnancy loss or loss in the early newborn period. It has been estimated that approximately 35% of individuals who have WHS die within the first two years of life. Also, with the advent of prenatal diagnosis, some fetuses with ultrasound abnormalities may be detected prenatally and the parents may elect to terminate the pregnancy. Approximately two-thirds of reported cases have been females.

When WHS is suspected, chromosome analysis should be performed and the laboratory should be informed as to what syndrome is suspected. This ensures that the laboratory carefully looks at chromosome 4 and if the deletion is not visible, then fluorescent in situ hybridization (FISH) can be done specifically for the critical 4p16.3 region of chromosome 4.

Treatment:

Since no treatment exists for the underlying genetic disorder, treatment for Wolf-Hirschhorn syndrome focuses on the symptoms present. For example, seizure disorder would be treated with medication, and difficulty eating or swallowing might require a gastrostomy feeding tube. Physical and occupational therapy can help maintain muscle strength and joint mobility. Care by many different specialists may be needed.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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