MKS disease, also known as Meckel-Gruber syndrome (MKS), is a rare and lethal autosomal recessive disorder that affects multiple organs. It is characterized by severe developmental abnormalities, particularly in the brain, kidneys, and limbs.
Common features of MKS include:
- Occipital encephalocele: A protrusion of the brain and meninges through an opening in the skull at the back of the head.
- Bilateral renal cystic dysplasia: Enlarged kidneys with numerous cysts.
- Hepatic ductal plate malformations: Abnormalities in the bile ducts of the liver.
- Postaxial polydactyly: Extra fingers or toes on the pinky side of the hand or foot.
MKS is caused by mutations in genes that encode proteins involved in the structure and function of cilia, which are hair-like structures on the surface of cells. These mutations disrupt normal cell signaling and development, leading to the characteristic features of the syndrome.
The most common features of MKS are:
- Central nervous system malformations: Occipital encephalocele, hydrocephalus, anencephaly, holoprosencephaly, and Dandy-Walker malformation.
- Renal cystic dysplasia: Enlarged kidneys with numerous cysts.
- Hepatic ductal plate malformations: Abnormalities in the bile ducts of the liver.
- Polydactyly: Extra fingers or toes.
MKS is a lethal disorder, and affected individuals typically survive only a few days to a few weeks at the most.
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