Infants born with atelosteogenesis type 2 typically exhibit distinctive physical characteristics, including very short arms and legs, a narrow chest, and a prominent, rounded abdomen. Additionally, they may have a cleft palate, unique facial features, a clubfoot, and thumbs positioned in an unusual manner, known as hitchhiker thumbs.
The signs and symptoms of atelosteogenesis type 2 bear resemblance to another skeletal disorder called diastrophic dysplasia, but atelosteogenesis type 2 tends to be more severe. Due to significant health complications, affected infants are often stillborn or pass away shortly after birth due to respiratory failure. While some infants have survived for a brief period with intensive medical intervention, the prognosis for this disorder remains challenging.