Cause of the Limb Differences

“Trust in the Lord with all your heart and lean not on your own understanding; in all your ways acknowledge him, and he will make your paths straight.” Proverbs 3:5-6 (NIV)

After visit to Shriner's Hospital at 6-months-old, we were told by a physician that his "congenital below the elbow amputation" was not due to an amniotic band (as we had been told by the OB and pediatrician), but rather, caused by a sporadic genetic incident.  Because he did not have any remnants of a band at the time of delivery, as well as the appearance with the very small digits, the specialist came to this conclusion.  We were told that this genetic amputation is sometimes linked with heart and kidney defects; however, are no signs that our child has these other conditions.  We were told that 75% of the time, with the genetic cause, it affects the left side. 

The only other physical differences he has are Congenital Hypothyroidism and Clinodactyly.  Clinodactyly is a congenital anomaly characterized by abnormal lateral bending of the fingers or toes.  In our son’s case, his toes are overlapping and crooked on both feet, but his fingers are straight.  Hypothyroidism was detected during newborn screenings when his thyroid stimulating hormone (TSH) was elevated.  A second test confirmed this so he was started on levothyroxine (Synthroid) at about three-weeks-old.  His pediatric endocrinologist is unsure as to whether the arm defect and the thyroid deficiency are related.  If anyone else has information about this, or has experienced these two differences in unison, we would love to hear from you.

Symbrachydactyly: Information and Videos