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Meckel-Gruber Syndrome

Severe physical malformations present


Updated February 08, 2004

Meckel-Gruber syndrome is an inherited genetic disorder. Both parents must carry copies of the defective gene for their child to develop the syndrome. The incidence of Meckel-Gruber syndrome worldwide varies from 1 in 13,250 to 1 in 140,000 live births. Research has found some populations with higher incidences of the syndrome. It affects boy and girl babies of all ethnic backgrounds.

Meckel-Gruber syndrome causes specific physical malformations:

  • The infant’s front “soft spot” (fontanel) is too big, which allows some of the brain and spinal fluid to bulge out (encephalocele)
  • The kidneys have many cysts in them (polycystic). This causes the kidneys to be too big and to not work properly.
  • There are too many fingers and/or toes (polydactyly)
  • The liver and lungs did not develop properly before birth.
Some infants also have physical problems with their faces or genitals.

Infants with Meckel-Gruber syndrome can be diagnosed based on their appearance at birth, or by ultrasound before birth, usually in the second trimester of pregnancy.

Unfortunately, because of the severe physical defects present in the syndrome, an infant with Meckel-Gruber syndrome will either be stillborn or die shortly after birth. The too-small lungs and abnormal kidneys cannot support life. This is a sad outcome for many families because the pregnancy proceeds normally, with no complications, yet the baby dies. If Meckel-Gruber syndrome is detected by prenatal ultrasound, some parents choose to terminate the pregnancy, which is also a sad and difficult decision.

Parents who have the gene for Meckel-Gruber syndrome may have more than one infant with the disorder. Each pregnancy they have has a 1 in 4 chance that the baby will be born with the syndrome.

What the symptoms of Meckel-Gruber syndrome are, and how to diagnose it prenatally, have been studied by a number of researchers. Scientists have also found genes for the syndrome on chromosome 17 and chromosome 11. Yet much more research needs to be done so that so that this syndrome can be prevented from occurring.

Information for this article was taken from:
Carter, S.M. (2002). Meckel-Gruber syndrome. eMedicine, accessed at http://www.emedicine.com/ped/topic1390.htm

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