SNP Shot: Genomic Insights

Atelosteogenesis type 2 is a critical condition that severely impacts the development of cartilage and bone. Newborns affected by this disorder exhibit extremely shortened limbs, a constricted thorax, and a noticeably enlarged, rounded abdomen. Additional characteristics include a cleft palate, unique facial characteristics, clubfoot (where the foot turns inward and upward), and thumbs that are positioned abnormally, often referred to as hitchhiker thumbs.

The symptoms and characteristics observed in atelosteogenesis type 2 resemble those seen in diastrophic dysplasia, another skeletal disorder. However, atelosteogenesis type 2 generally presents with greater severity. Due to significant health complications, most infants with this condition are either stillborn or succumb to respiratory failure shortly after birth. In rare instances, some infants have survived for a brief period with intensive medical care.

Inheritance:

Atelosteogenesis type 2 follows an autosomal recessive inheritance pattern. This means that both copies of the responsible gene within each cell must carry mutations for the condition to manifest. Individuals with autosomal recessive conditions inherit one mutated copy of the gene from each parent, who are typically carriers but do not exhibit the condition's symptoms themselves.