SNP Shot: Genomic Insights

Wiedemann-Rautenstrauch syndrome is a progeria-type disorder, belonging to a group of genetic conditions causing premature and accelerated aging. The syndrome's characteristics become apparent even before birth. Individuals with Wiedemann-Rautenstrauch syndrome experience growth and weight gain deficits both before and after birth. A hallmark of the condition is a distinctive facial appearance resembling old age. This includes a large head, a triangular face with a prominent forehead and pointed chin, a small mouth with a thin upper lip, low-set ears, and abnormal lower eyelids. Midface retraction, where the middle of the face appears drawn inward, is common. Scalp hair is sparse, and veins are prominent. Lipodystrophy, a deficiency of subcutaneous fatty tissue, particularly in the face, arms, and legs, contributes to the aged appearance. Skin is also thin and translucent. Joint contractures, limiting movement, can also develop.

Individuals affected by Wiedemann-Rautenstrauch syndrome often exhibit enlarged fontanelles, the soft spots between skull bones in infants. These fontanelles, which usually close in early childhood, may remain open throughout life. The presence of natal teeth at birth is common, but these teeth typically fall out shortly after. Furthermore, the development of permanent teeth may be incomplete (hypodontia).

Some individuals with Wiedemann-Rautenstrauch syndrome may experience movement disorders, such as ataxia (impaired coordination and balance) or tremor (involuntary rhythmic shaking), which manifest in childhood and progress over time.

The lifespan of individuals with Wiedemann-Rautenstrauch syndrome varies. Some do not survive infancy, while others live into young adulthood.

Inheritance:

Wiedemann-Rautenstrauch syndrome follows an autosomal recessive inheritance pattern. This means that both copies of the responsible gene in each cell must have mutations for the condition to develop. Individuals with autosomal recessive disorders inherit one mutated copy of the gene from each parent, who are typically carriers without displaying symptoms of the syndrome.