EEC Syndrome (Ectrodactyly-Ectodermal Dysplasia-Clefting) is a rare form of ectodermal dysplasia. It is a mutation in the TP63 gene and can be inherited or a spontaneous mutation. A spontaneous mutation means that the change started in the affected individual and wasn't inherited from a parent. Michael's case is a spontaneous mutation. My husband, our daughter and I have been tested and do not carry this mutation. Each case is different and can vary from mild to severe. Children affected can have missing or atypical fingers and or toes, abnormalities of the hair and glands (particularly sweat glands), a cleft lip or palate, problems with the eyes, tears and tear ducts, and issues with the flow of urine in the urinary tract. Treatment can involve a team of professionals from many different disciplines depending on the severity of the case. You will see the following again when I share the article I wrote for the NFED. I am not a doctor and I might misspell something or use incorrect grammar or punctuation, but my goal is to educate people and share our story.
Michael will be three in July and has undergone six surgical procedures. On December 26th of 2012, one day shy of five months old, he had his first two procedures. He had syndactyly release of his right thumb and index finger, as well as the metatarsal leading to his missing toe removed and the cleft pulled in. He was in a mitten cast up to his arm pit and an open toe cast up to his groin for four weeks. The following March, he had the same procedures on his left hand and foot. In late December of 2013, he had surgery on his right index finger again to release scar contracture. In late December of 2014, he had reconstruction of the ligament on the metacarpophalangeal joint of his index finger on his right hand to keep it from lying sideways. There are at least three more surgeries in the near future to separate married tendons leading to the proximal (PIP) and distal interphalangeal joints in both index fingers, as well as either joint repair of the PIP joint or joint stabilization for better pinching capability. Both index fingers sit at approximately a 90 degree angle with very little mobility. His last procedure will be syndactyly release of his super digit on his left hand. The bones share one skin and one fingernail, but are separate until they tether together at the end. Our goal in all of his surgeries has nothing to do with cosmetics, rather with use and mobility. We want to give him as much use of his hands as possible. We are thankful to have Duke University so close to our home. Our occupational therapist has been with us since his first surgery. Without our pediatrician’s support and guidance, we would have had no idea where to even start.