Ablepharon-Macrostomia Syndrome synonyms

Ablepharon-Macrostomia Syndrome, also known as AMS, is a rare genetic disorder characterized by the combination of two distinct facial abnormalities: ablepharon, the absence or severe underdevelopment of eyelids, and macrostomia, an unusually wide mouth. This condition affects multiple systems in the body, leading to various physical and developmental challenges.

Synonyms for Ablepharon-Macrostomia Syndrome include:

• Ablepharon-Macrostomia Syndrome type 1 (AMS1): This term is used to specify the specific subtype of the syndrome.


• AMS: An abbreviation commonly used by medical professionals and researchers.


• Macrostomia-Ablepharon Syndrome: An alternative name that emphasizes the reversed order of the two primary features.


• Macrostomia-Ablepharon Syndrome type 1 (MAS1): Similar to AMS1, this term specifies a particular subtype of the syndrome.

Individuals with Ablepharon-Macrostomia Syndrome may experience additional symptoms such as sparse or absent eyebrows and eyelashes, ear abnormalities, skin abnormalities, genital anomalies, and developmental delays. The severity of these features can vary widely among affected individuals.

Diagnosis of Ablepharon-Macrostomia Syndrome is typically based on clinical evaluation, physical examination, and genetic testing. Genetic counseling is crucial for affected individuals and their families to understand the inheritance pattern and potential risks for future pregnancies.

Management of Ablepharon-Macrostomia Syndrome involves a multidisciplinary approach, addressing the specific needs of each individual. Treatment may include surgical interventions to correct eyelid and mouth abnormalities, as well as therapies to support developmental progress and improve quality of life.

Research and ongoing studies aim to further understand the underlying genetic causes of Ablepharon-Macrostomia Syndrome, potentially leading to improved diagnostic methods and targeted treatments in the future.