SNP Shot: Genomic Insights

Boomerang dysplasia is a skeletal condition disrupting normal bone growth. Newborns with this disorder often present with clubfeet (feet turned inward and upward) and dislocated hips, knees, and elbows. Bone development can be severely impacted, with bones in the spine, ribs, pelvis, and limbs being either underdeveloped or entirely absent. These bone abnormalities lead to significantly shortened arms and legs. A characteristic feature is the pronounced bowing of the femurs, resulting in a "boomerang" appearance.

In some cases, individuals with boomerang dysplasia may exhibit an encephalocele (a sac-like protrusion of the brain) or an omphalocele (an opening in the abdominal wall near the navel, allowing abdominal organs to protrude). They typically have a distinctive broad nose with very small nostrils and an underdeveloped nasal septum.

Boomerang dysplasia often involves an underdeveloped rib cage, which impairs lung development and function. Consequently, most affected individuals are stillborn or succumb to respiratory failure shortly after birth.

Inheritance:

Boomerang dysplasia follows an autosomal dominant inheritance pattern. This means that a single copy of the mutated gene in each cell is enough to cause the condition. In the vast majority of cases, the disorder arises from new, spontaneous mutations in the gene, occurring in individuals with no prior family history of the condition.