Ablepharon Macrostomia Syndrome

This page is dedicated to Ablepharon Macrostomia Syndrome or AMS.


Information on AMS has been provided by the National Organization for Rare Disorders (NORD) and by personal experience and extensive research.

Ablepharon Macrostomia Syndrome is an extremely rare inherited genetic disorder that is characterized by different physical abnormalities that affect the head and facial areas, skin, fingers, and the genitalia. The people affected by AMS may also have malformations of the nipples and the abdominal wall.

Some of the characteristics of AMS are: lack of or under-developed eyelids(Ablepharon), absence of eyelashes and eyebrows, wide fish-like mouths(Macrostomia), and/or incompletely developed, low set ears. Eye abnormalities may occur due to the ablepharon. People with AMS can also have abnormally sparse, thin hair; coarse, dry, thickened skin with excessive folds. They may have webbed fingers with limited extension of the fingers and may have malformations of the external genitalia. In some cases of AMS, the individual has absent or very small nipples and/or protrusion of portions of the large intestine through an opening in the abdominal wall (abdominal or ventral hernia)

The cause of Ablepharon Macrostomia Syndrome is not known, but some of the cases suggest that AMS may be inherited as an autosomal recessive genetic trait.

Children and infants with AMS may experience delays in language development. Some children may show signs of mild mental retardation and others may have normal intelligence.

IF YOU HAVE ANY OF THESE SYMPTOMS AND NEED MORE INFORMATION ON AMS, PLEASE BE SURE TO SIGN THE GUEST BOOK AND INCLUDE YOUR E-MAIL ADDRESS OR E-MAIL US AT THE LINK BELOW AND WE WILL BE GLAD TO SEND YOU MORE INFORMATION.

We have a daughter born with AMS on April 20, 1999. We have received many prayers from people we have never met. We thank God everyday for Allison Brooke!!

We have also been blessed with 3 new friends who have AMS...Joshua Sheha, 7 years old of Hollywood, Florida ,Colleene Felver, 30 years old of Hudson, Florida and Caitlin Sarubbi, 12 years old of Brooklyn, NY. We are so thankful to them for their help and support. Through their experiences, we are learning what to expect as Allison grows.

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UPDATE-January 2, 2003:Wow! It has been an incredible couple of years! Allison has has had 2 surgeries (March 2000 and April 2001) both were done at Erlanger Medical Center in Chattanooga. We are scheduled to take her back to Chattanooga on January 17 for an appointment with Dr. Sargent. She has continued to gain weight. She is up to a whopping 26 pounds. She still has her daily therapies (Physical, Occupational, and Speech). She is also attending a Speech Therapy group at Valdosta State University. But she is doing so many things theat were never thought possible. She has started growing hair and some very faint eyebrows! =) In the past couple of years, Allie has also gotten some "extra" family members. A new step-dad (Cliff) and a new step-mom (Donna), step-brother(Levi) & step-sister (Bess). Even more people to love her!!! Her Mema & Papa are doing a great job with her. Please continue to pray for her!

"I can do all things through Christ who strengthens me ." Philippians 4:13

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Email: egiddens@valdosta.edu