About Mac and Pfeiffers and Aperts Syndrome

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Mac's Story

MacKenzie Alexandra Madeline Weber was born on November 17, 1999. She was 5 weeks premature but was too excited to meet her mom and big sister to wait for Christmas to come. As soon as Mac was born, she was taken to the NICU. Doctors' came to my room and told me Mac was born with a rare syndrome called Aperts. This meant that all the bones in her head were fused together. This gave her the appearance of having a large "bump" on her forehead. They had never seen a baby with this at that hospital before so they weren't sure what to do. She was not diagnosed with Pfeiffers until she was two weeks old. She spent 2 1/2 weeks in the NICU learning to eat. She came home December 3, 1999. Her big sister took right to her. This was not my baby but hers. Cheryl became Mac's other mother and we began the long search for information on this rare disease. Mac met her surgical team on December 6, 1999. They explaned to me what needed to be done to correct what was wrong with her head. Mac's first cranial surgery was set for Wed. March 15, 2000. To the Dr.'s at the University of California, San Francisco; Dr. Hoffman, Dr. Peacock, Nurse Anne, Dr. Crop, Dr. Vargaveck and all the others...Thank you, you took good care of my baby.

What is Pfeiffers Syndrome? What is Aperts Syndrome?

Pfeiffers Syndrome predominantly affects the appearance of the head and face. The hands and feet may also be affected.The skull is made up of flat plate-like cranial bones which are connected by seam-like joints or cranial sutures. The face is also joined by sutures. During normal childhood and into adulthood, these sutures slowly fuse.In Pfeiffers children these cranial sutures fuse prematurely. This is called craniosynastosis.In the face, the most common features are a regressed mid-face, shallow eye sockets and the eyes are wide set.The hands and feet are involved to a variable degree. The thumbs and toes are broad and some fingers and/or toes may be webbed.Aperts Syndrome is similar to Pfeiffers in that the craniosynostosis is the same. However the hands differ in the fact that Aperts is usually defined by completely webbed hands or "mitten hands".

Danielle Silva

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Mac and Family