Ablepharon macrostomia syndrome (AMS) is an extremely rare, autosomal dominant genetic disorder characterized by abnormal phenotypic appearances that primarily affect the head and face as well as the skull, skin, fingers and genitals.

[1] The most prominent abnormality is the underdevelopment (microblepharon) or absence of eyelids – signifying the ablepharon aspect of the disease – and a wide, fish-like mouth – macrostomia.

[9] Current research points to the substitution of the wild-type amino acid for Lysine at TWIST2 residue 75 as a significant genetic cause of AMS.

[9] AMS is inherited in an autosomal dominant manner, in which an affected individual needs only one copy of the mutant allele in order to express the disease.

[9] Ablepharon macrostomia syndrome can be diagnosed at birth by identification of characteristic physical findings, clinical evaluation, and specialized imaging techniques such as CT scans.

[11] Primary treatment focuses on relief of immediate symptoms such as providing lubrication to the eyes to relieve pain and dryness; antibiotics may also be prescribed to prevent infections and inflammation.

[12] While there is no cure for AMS, treatment plans provided by doctors can help improve development,[13] overall quality of life, and physical appearance.

According to a study conducted by the departments of ophthalmology in São Paulo and Lima, Peru, full thickness skin grafts have been shown to effectively treat microblepharon in patients with AMS without needing complicated surgeries.