chromosome 16p11.2 duplication syndrome

Chromosome 16p11.2 duplication syndrome is a rare chromosomal anomaly caused by a partial duplication of the short arm of chromosome 16. It is characterized by a range of developmental challenges, including intellectual disability and delayed speech and language development, which are present in all affected individuals. Other clinical features may include autism spectrum disorder, obsessive-compulsive disorder, attention deficit hyperactivity disorder, and various physical traits such as a flat face and deeply set eyes. The inheritance pattern is autosomal dominant, meaning that an affected individual has a 50% chance of passing the condition to each child.

The clinical features of chromosome 16p11.2 duplication syndrome include intellectual disability and delayed speech and language development, both of which are always present. Other common features, occurring in 30-79% of individuals, include motor delay, deeply set eyes, a flat face, smooth philtrum, hypertelorism, thin upper lip vermilion, frontal bossing, and sparse eyebrows. These features can vary widely in severity among affected individuals.

Documentation about chromosome 16p11.2 duplication syndrome is limited primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals. This rarity restricts the scope of systematic clinical studies and comprehensive characterizations of the condition. Additionally, the genetic basis has not been fully elucidated, which complicates the understanding of its clinical manifestations.

Currently, there is one active clinical trial investigating chromosome 16p11.2 duplication syndrome. While there are no orphan drugs designated for this condition, participation in clinical trials may provide access to new treatment approaches and contribute to the understanding of the syndrome. You can find more information about ongoing trials at ClinicalTrials.gov by searching for 'chromosome 16p11.2 duplication syndrome'.