Ablepharon macrostomia syndrome - congenital condition
AMS is the short form of Ablepharon macrostomia syndrome. It can be generally defined as a rare genetic disorder which can be characterized by ablepharon or microblepharon and also it along with macrostomia. The main features and characteristics of this Ablepharon macrostomia syndrome majorly includes the unusual appearance of the face and skin and in some rare cases it involves viscera or internal organs. Because, AMS syndrome typically comes under the group of diseases which is commonly known as ectodermal dysplasias as it mainly involves abnormalities in some parts of your body like skin, sweat glands, hair, nails, and/or teeth. What makes this syndrome different from other ectodermal dysplasias because it does not involve all the characteristics that are called it is considered as genuine malformation syndrome. More of that, Ablepharon macrostomia syndrome is typically caused by TWIST2 gene mutations with autosomal dominant genes which makes its occurrence suddenly spor...