Ablepharon macrostomia syndrome (AMS) is a rare genetic disorder that affects the development of the face, skin, and limbs. It is characterized by the absence or severe underdevelopment of the eyelids, a wide mouth, and abnormal ear and nasal structures.
The name “ablepharon” means absence of eyelids, while “macrostomia” refers to an abnormally large mouth. Individuals with AMS may also have absent or underdeveloped eyebrows and eyelashes, and their skin may be thickened and rough.
AMS is caused by mutations in one of several genes that are involved in the development of the face and limbs. The specific genes involved in AMS vary depending on the individual case.
Diagnosis of AMS is usually made based on the physical characteristics of the individual, as well as genetic testing to confirm the presence of a gene mutation.
Treatment for AMS is generally focused on managing the symptoms of the disorder. This may include surgeries to correct eyelid and ear abnormalities, as well as management of skin and hair issues. Other treatments may be tailored to the specific needs of the individual based on their symptoms.
Due to the rarity of AMS, it is important for individuals with the disorder and their families to work closely with medical professionals who have experience in treating genetic disorders.