In 1989, the night my son Andrew was born, we were told he was going to die. Andrew was diagnosed with Campomelic Dysplasia, a severe disorder affecting the development of the skeleton and reproductive system. Mutations in or near the SOX9 gene are now known to cause campomelic dysplasia, of which was suspected for my son Andrew.

This condition is most often life-threatening in the newborn period.  The term “campomelic” comes from the Greek words for “bent limb.” Affected individuals are typically born with bowing of the long bones in the legs, and they are occasionally born with bowing in the arms. Bowing can cause characteristic skin dimples to form over the curved bone, especially on the lower legs.

People with campomelic dysplasia also usually have short legs, dislocated hips, underdeveloped shoulder blades, 11 pairs of ribs instead of 12, bone abnormalities in the neck, and feet that are abnormally rotated (clubfeet). When affected individuals have features of this disorder but do not have bowed limbs, they are said to have acampomelic campomelic dysplasia. Some babies die in vitro, some die at birth. Those that survive require surgeries and quite a lot of intervention.

Our Andrew lived 55 days.