Save information for later
Sign Up

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?
Distinguished in Ablepharon Macrostomia Syndrome
Internal Medicine
Distinguished in Ablepharon Macrostomia Syndrome
Internal Medicine

Harvard Medical Faculty Phys At Beth Israel Deaconess Med Ctr Inc

330 Brookline Ave, 
Boston, MA 
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Hans Kim is a primary care provider, practicing in Internal Medicine in Boston, Massachusetts. Dr. Kim is rated as a Distinguished provider by MediFind in the treatment of Ablepharon Macrostomia Syndrome. His top areas of expertise are Craniofacial-Deafness-Hand Syndrome, Deafness Craniofacial Syndrome, Weill-Marchesani Syndrome, and Acromegaloid Facial Appearance Syndrome. Dr. Kim is currently accepting new patients.

Paul Rich
Experienced in Ablepharon Macrostomia Syndrome
Family Medicine
Experienced in Ablepharon Macrostomia Syndrome
Family Medicine

Medical Outpatient Center - C, Atintown

1570 South Canfield Niles Road, Building A, 
Atintown, OH 
Languages Spoken:
English

Paul Rich is a primary care provider, practicing in Family Medicine in Atintown, Ohio. Dr. Rich is rated as an Experienced provider by MediFind in the treatment of Ablepharon Macrostomia Syndrome. His top areas of expertise are Moebius Syndrome, Apert Syndrome, Marden Walker Like Syndrome, Goldenhar Disease, and Pacemaker Implantation.

 
 
 
 
Learn about our expert tiers
Learn More
Roman Davidenko
Experienced in Ablepharon Macrostomia Syndrome
Family Medicine
Experienced in Ablepharon Macrostomia Syndrome
Family Medicine

Medical Outpatient Center - A, Atintown

1440 South Canfield Niles Road, Suite B, 
Atintown, OH 
Experience:
19+ years
Languages Spoken:
English

Roman Davidenko is a primary care provider, practicing in Family Medicine in Atintown, Ohio. Dr. Davidenko has been practicing medicine for over 19 years and is rated as an Experienced provider by MediFind in the treatment of Ablepharon Macrostomia Syndrome. His top areas of expertise are Moebius Syndrome, Orofaciodigital Syndrome 1, Weill-Marchesani Syndrome, Charlie M Syndrome, and Pacemaker Implantation.

What are the latest Ablepharon Macrostomia Syndrome Clinical Trials?
Match to trials
Find the right clinical trials for you in under a minute
Get started
Who are the sources who wrote this article ?

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