Ablepharon macrostomia syndrome

Overview
Ablepharon macrostomia syndrome (AMS) is an extremely rare autosomal recessive genetic disorder characterized by malformations of the skull, skin, fingers and genitals. Affected individuals may also have malformations of the nipples and abdominal wall.

Younger individuals might experience language difficulties, and in some instances mental retardation is known.

Genetics


It has been suggested that Ablepharon Macrostomia Syndrome is inherited as an autosomal recessive genetic trait.