SNP Shot: Genomic Insights

Meckel syndrome is a serious condition impacting multiple body systems, marked by significant signs and symptoms. Key characteristics include cystic kidney enlargement, occipital encephalocele (a sac-like brain protrusion at the skull's back), and polydactyly (extra fingers and toes). Liver fibrosis is also frequently observed.

The other signs and symptoms of Meckel syndrome can differ greatly from person to person. Many central nervous system abnormalities, including neural tube defects (birth defects resulting from incomplete neural tube closure during early embryonic development), have been noted in individuals with this syndrome. Meckel syndrome can also lead to developmental issues affecting the eyes, facial features, heart, bones, urinary tract, and reproductive organs.

Due to the severity of their medical issues, most individuals with Meckel syndrome do not survive long, typically dying before or soon after birth, most commonly from respiratory distress or kidney failure.

Inheritance:

Meckel syndrome follows an autosomal recessive inheritance pattern. This means that an individual must inherit a mutated copy of the responsible gene from both parents. The parents, while carrying one copy of the mutated gene, usually do not exhibit any symptoms of the condition themselves.