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Meckel syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Meckel syndrome

Meckel syndrome is a severe, life-threatening genetic disorder characterized by enlarged kidneys, central nervous system abnormalities, and extra fingers or toes. Because of these serious health complications, most affected individuals die before or shortly after birth.

Overview & Symptoms

Meckel syndrome is a disorder with severe signs and symptoms that affect many parts of the body. The most common features are enlarged kidneys; an occipital protrusion, which is a sac-like protrusion of the brain through an opening at the back of the skull; and the presence of extra fingers and toes. Most affected individuals also have a buildup of scar tissue (fibrosis) in the liver.

Other signs and symptoms of Meckel syndrome vary widely among affected individuals. Numerous abnormalities of the brain and spinal cord (central nervous system) have been reported in people with Meckel syndrome, including a group of birth defects known as neural tube defects. These defects occur when a structure called the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. Meckel syndrome can also cause problems with development of the eyes and other facial features, heart, bones, urinary system, and genitalia.

Because of their serious health problems, most individuals with Meckel syndrome die before or shortly after birth. Most often, affected infants die of respiratory problems or kidney failure.

Frequency

Meckel syndrome affects 1 in 13,250 to 1 in 140,000 people worldwide. It is more common in certain populations; for example, the condition affects about 1 in 9,000 people of Finnish ancestry and about 1 in 3,000 people of Belgian ancestry.

Causes & Genetic Factors

Meckel syndrome can be caused by mutations in one of at least eight genes. The proteins produced from these genes are known or suspected to play roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells and are involved in signaling pathways that transmit information between cells. Cilia are important for the structure and function of many types of cells, including brain cells and certain cells in the kidneys and liver.

Mutations in the genes associated with Meckel syndrome lead to problems with the structure and function of cilia. Defects in these cell structures probably disrupt important chemical signaling pathways during early development. Although researchers believe that defective cilia are responsible for most of the features of this disorder, it remains unclear how they lead to specific developmental abnormalities of the brain, kidneys, and other parts of the body.

Mutations in the eight genes known to be associated with Meckel syndrome account for about 75 percent of all cases of the condition. In the remaining cases, the genetic cause is unknown. Mutations in several other genes have been identified in people with features similar to those of Meckel syndrome, although it is unclear whether these individuals actually have Meckel syndrome or a related disorder (often described as a "Meckel-like phenotype").

Genes Associated with Meckel Syndrome

  • CEP290
  • B9D1
  • B9D2
  • CC2D2A
  • MKS1
  • RPGRIP1L
  • TMEM216
  • TMEM67

Inheritance Pattern

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Other Names for This Condition

  • Dysencephalia splanchnocystica
  • Meckel-Gruber syndrome
  • MKS

Frequently Asked Questions

Meckel syndrome is inherited in an autosomal recessive pattern, meaning an individual must inherit two mutated copies of a specific gene, one from each parent, to develop the condition. Parents are typically asymptomatic carriers. If both parents are carriers, there is a 25 percent chance with each pregnancy that the child will be affected, a 50 percent chance the child will be an unaffected carrier, and a 25 percent chance the child will not inherit the mutation. Genetic counseling and carrier testing for the partner are recommended for families with a history of the disorder.
Prenatal diagnosis is possible through ultrasound, which can detect characteristic signs such as enlarged kidneys, an occipital encephalocele (a sac-like protrusion at the back of the head), and polydactyly (extra fingers or toes). If these markers are identified, genetic testing can be performed via amniocentesis or chorionic villus sampling to confirm the diagnosis by analyzing fetal DNA for mutations in associated genes. This allows for early counseling and preparation for the condition's severe prognosis.
The higher prevalence in specific populations, such as those of Finnish and Belgian descent, is often attributed to the founder effect. This occurs when a small group of people with a specific genetic mutation establishes a new population, leading to a higher frequency of that mutation in subsequent generations. In these isolated or historically isolated communities, the gene pool is smaller, increasing the likelihood that two carriers will mate and pass the condition to their offspring.
Most individuals with Meckel syndrome do not survive past infancy, with death typically occurring before birth or shortly after. The leading causes of mortality are respiratory failure due to central nervous system abnormalities and kidney failure resulting from the severe structural defects and fibrosis in the kidneys. The complexity of the multi-system involvement makes long-term survival extremely rare.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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