Ablepharon Macrostomia Syndrome Signs Symptoms Causes скачать в хорошем качестве

Ablepharon Macrostomia Syndrome Signs Symptoms Causes

Ablepharon Macrostomia Syndrome - About the Disease Please Subscribe to my channel - https://goo.gl/1bPwJX Hello Viewers, Welcome to My Channel. 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. AMS generally results in abnormal ectoderm-derived structures.[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. Infants presenting with AMS may also have malformations of the abdominal wall and nipples. Children with AMS might also experience issues with learning development, language difficulties and intellectual disabilities. AMS is caused by mutations in the TWIST2 gene, among others. It is closely related to Barber–Say syndrome in terms of phenotypic abnormalities. source: https://en.wikipedia.org/wiki/Ablepha... Thank you for watching this video. Please: LIKE || COMMENT || SHARE || SUBSCRIBE Related Terms: What causes Ablepharon macrostomia syndrome? How do you test for Ablepharon macrostomia syndrome? What is ablepharon Microsomia syndrome? How many people have ablepharon macrostomia syndrome? DISCLAIMER The images used on this video are downloaded from http://google.com, by means of fair use policy. Health Disclaimer The information on this site is not intended or implied to be a substitute for professional medical advice, diagnosis or treatment. All content, including text, graphics, images, and information, contained on or available through this website is for general information purposes only. #Ablepharon #Ablepharon_Macrostomia_syndrome #Ablepharon_Macrostomia