trisomy 18

Trisomy 18, also known as Edwards syndrome, is a chromosomal abnormality characterized by the presence of an extra chromosome 18. This condition leads to significant developmental delays and a range of physical anomalies, including growth delay, hypertonia, and various congenital heart defects such as ventricular and atrial septal defects. Other common features include omphalocele, deviations in finger formation, and short stature. The prevalence of trisomy 18 is estimated at 1-9 in 1,000,000 individuals, and while the genetic basis remains unclear, the clinical presentation is well-documented.

Individuals with trisomy 18 typically exhibit global developmental delay (80-99% prevalence), hypertonia, and significant growth delays. Other notable clinical features include intrauterine growth retardation, omphalocele, and congenital heart defects like ventricular and atrial septal defects. Limb anomalies such as deviations in finger formation and a narrow pelvis bone are also common. These features contribute to a complex clinical picture that requires multidisciplinary management.

The documentation surrounding trisomy 18 is limited due to its extreme rarity, affecting fewer than 10 individuals per million. This rarity results in fewer systematic clinical studies and a lack of established genetic markers. Additionally, the condition's phenotypic variability complicates comprehensive characterization, leaving many aspects of the condition under-researched. Despite these challenges, ongoing clinical observations and patient experiences continue to contribute valuable insights.

Currently, there are no orphan drug designations for trisomy 18; however, there is one active clinical trial focused on the condition. For more information on this trial, you can visit ClinicalTrials.gov and search for trisomy 18. This trial may provide insights into potential management strategies and therapeutic interventions for affected individuals.