chromosome 18p deletion syndrome

Chromosome 18p deletion syndrome, also known as monosomy 18p, is a chromosomal disorder characterized by the deletion of all or part of the short arm of chromosome 18. It is inherited in a sporadic manner and can exhibit features associated with autosomal dominant inheritance. Clinical manifestations include significant developmental delays, intellectual disabilities, and distinct physical traits such as brachydactyly, protruding ears, and short stature. The prevalence of this condition is estimated to be between 1-9 in 100,000 individuals, highlighting its rarity and the need for specialized care.

The clinical features of chromosome 18p deletion syndrome are diverse and impact multiple systems. Most individuals experience global developmental delay (80-99%), intellectual disability (80-99%), and speech and language delays. Physical characteristics commonly observed include brachydactyly (80-99%), protruding ears (80-99%), and facial features such as a short philtrum and a depressed nasal ridge (both 80-99%). Hypodontia and short stature are also prevalent in this population, indicating a complex interplay of developmental and physical challenges.

The documentation on chromosome 18p deletion syndrome is limited primarily due to its rarity, affecting fewer than 10,000 individuals worldwide. This low prevalence restricts the scope of systematic clinical studies and comprehensive genetic research. Furthermore, the genetic basis of the condition remains poorly defined, and ongoing clinical characterization is necessary to better understand its full spectrum of symptoms and implications.