Platyspondylic Lethal Skeletal Dysplasia

Platyspondylic lethal skeletal dysplasia is a disorder that affects bone growth.

It is a very severe disorder and to date, a rare disorder with only a few cases documented worldwide. A patient that has platyspondylic lethal skeletal dysplasia will have abnormally short arms and legs with short fingers and toes. Other common symptoms include a underdeveloped pelvic bone and small chest with little ribs.

Because of the small chest and small ribs, breathing is difficult and can lead to respiratory distress. Unfortunately, this disorder is usually fatal and most infants will be born too early or stillborn. If a child is born alive, it is common for death to occur because of respiratory failure.