Learn About Ablepharon Macrostomia Syndrome

What is the definition of Ablepharon Macrostomia Syndrome?
Ablepharon macrostomia syndrome is genetic disorder characterized by absent eyelids (ablepharon) and very large mouth (macrostomia). Other common signs and symptoms include abnormal external ears, fusion (syndactyly) of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations, and developmental delay. Other reported findings include underdeveloped cheeks (malar hypoplasia), absent or very small (hypoplastic) nipples, umbilical abnormalities and growth retardation. It belongs to a group of diseases called ectodermal dysplasias (genetic disorders that involve defects in the skin, hair, nails, sweat glands, and/or teeth). Ablepharon macrostomia syndrome is caused by mutations in the TWIST2 gene. Inheritance is autosomal dominant, but most cases are sporadic (when there are no other cases in the family). Treatment is aimed toward correcting the problems that are present. Mutations in TWIST2 gene also cause the Barber Say syndrome and Setleis syndrome, other ectodermal dysplasia syndromes which have very similar features.  
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What are the alternative names for Ablepharon Macrostomia Syndrome?
  • AMS
  • Congenital ablepharon, absent eyelashes/eyebrows, macrostomia, auricular, nasal, genital and other systemic anomalies
Who are the top Ablepharon Macrostomia Syndrome Local Doctors?
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Highly rated in
64
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University Of Magdeburg

Magdeburg, ST, DE 

Martin Zenker is in Magdeburg, Germany. Zenker is rated as a Distinguished expert by MediFind in the treatment of Ablepharon Macrostomia Syndrome. He is also highly rated in 64 other conditions, according to our data. His top areas of expertise are Noonan Syndrome, Rommen Mueller Sybert Syndrome, Johanson-Blizzard Syndrome, and Ablepharon Macrostomia Syndrome.

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29
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University Of Amsterdam

Amsterdam, NH, NL 

Mieke Van Haelst is in Amsterdam, Netherlands. Van Haelst is rated as a Distinguished expert by MediFind in the treatment of Ablepharon Macrostomia Syndrome. She is also highly rated in 29 other conditions, according to our data. Her top areas of expertise are Hirsutism in Women, Ablepharon Macrostomia Syndrome, Cantu Syndrome, and Schwartz-Jampel Syndrome.

 
 
 
 
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University Of Magdeburg

Magdeburg, ST, DE 

Denny Schanze is in Magdeburg, Germany. Schanze is rated as a Distinguished expert by MediFind in the treatment of Ablepharon Macrostomia Syndrome. He is also highly rated in 22 other conditions, according to our data. His top areas of expertise are Marshall-Smith Syndrome, Manitoba Oculotrichoanal Syndrome, Syndactyly, and Barber Say Syndrome.

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What are the Latest Advances for Ablepharon Macrostomia Syndrome?

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