Ablepharon-Macrostomia Syndrome (AMS) is an extremely rare inherited disorder characterized by various physical abnormalities affecting the head and facial (craniofacial) area, the skin, the fingers, and the genitals. In addition, affected individuals may have malformations of the nipples and the abdominal wall. Infants and children with AMS may also experience delays in language development and, in some cases, mental retardation.
In infants with Ablepharon-Macrostomia Syndrome, characteristic craniofacial features may include absence or severe underdevelopment of the upper and lower eyelids (ablepharon or microblepharon) as well as absence of eyelashes and eyebrows; an unusually wide, “fish-like” mouth (macrostomia); and/or incompletely developed (rudimentary), low-set ears (pinnae). Abnormalities of the eyes may occur due to, or in association with, ablepharon or microblepharon. Individuals with AMS may also have additional characteristic features including abnormally sparse, thin hair; thin, wrinkled skin with excess (redundant) folds; webbed fingers with limited extension; and/or malformations of the external genitals. In some cases, additional features associated with AMS may include absent or abnormally small (hypoplastic) nipples and/or abdominal wall abnormalities. Although the exact cause of Ablepharon-Macrostomia Syndrome is not fully understood, some cases suggest that the disorder may be inherited as an autosomal recessive genetic trait.
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