Ablepharon Macrostomia Syndrome Overview

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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.
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?
Dr. Charles D. Bess
Family Medicine
Dr. Charles D. Bess
Family Medicine
541 Harley O Staggers Dr, Suite 1, 
Keyser, WV 
 (53.3 mi)
304-788-1321
Languages Spoken:
English
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Accepting New Patients

Charles Bess is a Family Medicine provider in Keyser, West Virginia. Dr. Bess and is rated as an Experienced provider by MediFind in the treatment of Ablepharon Macrostomia Syndrome. His top areas of expertise are Lung Metastases, Cirrhosis, Familial Combined Hyperlipidemia, Xanthoma, and Hip Replacement. Dr. Bess is currently accepting new patients.

Dr. Samantha J. Frazier
Family Medicine
Dr. Samantha J. Frazier
Family Medicine

Womencare Inc

5161 Washington St W, 
Cross Lanes, WV 
 (129.1 mi)
304-757-6999
Experience:
5+ years
Languages Spoken:
English
See accepted insurances
Accepting New Patients

Samantha Frazier is a Family Medicine provider in Cross Lanes, West Virginia. Dr. Frazier has been practicing medicine for over 5 years and is rated as an Experienced provider by MediFind in the treatment of Ablepharon Macrostomia Syndrome. Her top areas of expertise are Greig Cephalopolysyndactyly Syndrome, Marden Walker Like Syndrome, Freeman-Sheldon Syndrome, and Otopalatodigital Syndrome Type 1. Dr. Frazier is currently accepting new patients.

 
 
 
 
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Dr. Charles Bukovinsky
Family Medicine
Dr. Charles Bukovinsky
Family Medicine
97 Great Teays Blvd, Suite 6, 
Scott Depot, WV 
 (133.8 mi)
304-757-6999
Languages Spoken:
English
See accepted insurances
Accepting New Patients

Charles Bukovinsky is a Family Medicine provider in Scott Depot, West Virginia. Dr. Bukovinsky and is rated as an Experienced provider by MediFind in the treatment of Ablepharon Macrostomia Syndrome. His top areas of expertise are Migraine, Neuralgia, Gastroesophageal Reflux Disease (GERD), and Chickenpox. Dr. Bukovinsky is currently accepting new patients.

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