Ablepharon macrostomia syndrome

Overview

Type of disease: Rare conditions

Ablepharon macrostomia syndrome (AMS) is a very rare disorder that causes physical abnormalities of the head and face (craniofacial), skin, fingers, and genitals. Head and facial features of infants with AMS may include missing or severely underdeveloped upper and lower eyelids (ablepharon or microblepharon) as well as missing eyelashes and eyebrows, an unusually wide "fish-like" mouth (macrostomia), and underdeveloped ears that sit lower on the head. Additional features may include a face that has a triangular shape and a small, abnormally shaped nose.

In addition to head and facial features, individuals with AMS may have thin hair, webbed fingers (syndactyly), thin and wrinkled skin with extra (redundant) folds, and genital abnormalities. The nipples may be abnormally small (hypoplastic) or absent and portions of the large intestine may poke out through an opening in the abdominal wall (hernia). Affected children may also have delays in language development and learning issues that can range from mild to moderate.

The exact cause of AMS is not fully understood, but researchers believe it is due to a change (mutation) in an unknown gene. The disorder is believed to be inherited in an autosomal recessive way, which means a mutation in both copies of the gene a person has is needed to cause AMS, but has not yet been confirmed. The diagnosis of AMS is usually made by a doctor who is familiar with rare genetic conditions, such as a geneticist, who uses a detailed physical examination to look for physical features of the disorder. There is no cure for AMS, but treatments may include therapies to help improve development. If your child has been diagnosed with AMS, talk to their doctor about all treatment options. Support groups can provide additional information.

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