Ablepharon Macrostomia Syndrome

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