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  Methylmalonic acidemia or MMA is generally a rare and fatal genetic disorder which affects metabolism and body systems that usually affects about 1 in 100,000 infants. Generally, these defects are caused by a genetic defect which prevents the body from processing proteins from foods you eat. People who have this health condition are unable to produce an enzyme which is needed to break down. This health condition causes a buildup of acids and other toxic substances in the blood, urine and other cells which includes brain cells other than creating proteins from your foods. Usually, this disease will mostly be diagnosed within a few months of life. But, how this toxic substance buildup will affect the body and it can vary drastically from one person to another person. For some people, this health condition can cause severe long term problems like seizures, strokes, growth problems, developmental delays and frequent severe illness. This metabolic defect leads to buildup of methylmalo...

  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...