SNP Shot: Genomic Insights

Atelosteogenesis type 3 is a genetic condition impacting bone development throughout the body. Babies born with this disorder typically exhibit clubfeet (feet that turn inward and upward) and dislocations of the hips, knees, and elbows. Furthermore, bones in the spine, ribs, pelvis, and limbs can be underdeveloped or, in some instances, missing altogether. This leads to extremely short arms and legs. The hands and feet are often wide, featuring broad fingers and toes that might be permanently bent (camptodactyly) or fused (syndactyly). Facial characteristics often include a broad forehead, widely spaced eyes (hypertelorism), and an underdeveloped nose. Approximately 50% of those affected also have a cleft palate.

A key feature of atelosteogenesis type 3 is an underdeveloped rib cage, which compromises lung development and function. Consequently, infants are often stillborn or succumb to respiratory failure soon after birth. While some individuals survive longer with significant medical intervention, they usually continue to face respiratory issues due to airway weakness, leading to partial airway closure, apnea (brief pauses in breathing), and recurrent infections. Those who live beyond infancy may experience learning disabilities and language delays, likely due to insufficient oxygen to the brain secondary to breathing difficulties. Orthopedic abnormalities also cause delays in motor skill development, such as standing and walking.

Inheritance:

Atelosteogenesis type 3 follows an autosomal dominant inheritance pattern. This means that possessing just one copy of the mutated gene in each cell is enough to cause the condition. The majority of cases arise from spontaneous, new mutations in the gene and occur in individuals with no prior family history of the disorder.