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 genetic changes in the TWIST2 gene. Inheritance is autosomal dominant, but most cases are sporadic (when there are no other cases in the family). Genetic changes 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?
  • 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?
Distinguished
Highly rated in
69
conditions

University Of Magdeburg

Institute Of Human Genetics & Department Of Pediatrics 
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 69 other conditions, according to our data. His top areas of expertise are Noonan Syndrome, RASopathies, Rommen Mueller Sybert Syndrome, and Marshall-Smith Syndrome.

Distinguished
Highly rated in
27
conditions

University Of Amsterdam

Amsterdam, NH, NL 1105A

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 27 other conditions, according to our data. Her top areas of expertise are Ablepharon Macrostomia Syndrome, Hirsutism in Women, Cantu Syndrome, and Multiple Epiphyseal Dysplasia.

 
 
 
 
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Distinguished
Highly rated in
26
conditions

University Of Magdeburg

Leipziger Str. 44 
Magdeburg, ST, DE 39120

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 26 other conditions, according to our data. His top areas of expertise are Marshall-Smith Syndrome, Manitoba Oculotrichoanal Syndrome, Syndactyly, and Ablepharon Macrostomia Syndrome.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Ablepharon Macrostomia Syndrome?
Ablepharon macrostomia syndrome: Absent prepuce in the first case report in West Africa.
Laryngo-tracheal stenosis in a woman with ablepharon macrostomia syndrome.
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