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?
Distinguished in Ablepharon Macrostomia Syndrome
Dr. Hans S. Kim
Internal Medicine
Distinguished in Ablepharon Macrostomia Syndrome
Dr. Hans S. Kim
Internal Medicine

Harvard Medical Faculty Phys At Beth Israel Deaconess Med Ctr Inc

330 Brookline Ave, 
Boston, MA 
 (1.9 mi)
617-754-8612
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Hans Kim is an Internal Medicine provider in Boston, Massachusetts. Dr. Kim and is rated as a Distinguished provider by MediFind in the treatment of Ablepharon Macrostomia Syndrome. His top areas of expertise are Marden Walker Like Syndrome, Oral-Facial-Digital Syndrome, Kaufman Oculocerebrofacial Syndrome, and Apert Syndrome. Dr. Kim is currently accepting new patients.

Advanced in Ablepharon Macrostomia Syndrome
Dr. Dineli N. Ahearn
Internal Medicine
Advanced in Ablepharon Macrostomia Syndrome
Dr. Dineli N. Ahearn
Internal Medicine

Pratt Medical Group Inc

800 Washington St, 
Boston, MA 
 (2.5 mi)
617-636-5000
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Dineli Ahearn is an Internal Medicine provider in Boston, Massachusetts. Dr. Ahearn and is rated as an Advanced provider by MediFind in the treatment of Ablepharon Macrostomia Syndrome. Her top areas of expertise are Osteoporosis, Postmenopausal Osteoporosis, Cellulitis, and Obesity in Children. Dr. Ahearn is currently accepting new patients.

 
 
 
 
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Advanced in Ablepharon Macrostomia Syndrome
Dr. Andrew H. Balder
Pediatrics | Internal Medicine
Advanced in Ablepharon Macrostomia Syndrome
Dr. Andrew H. Balder
Pediatrics | Internal Medicine

Baystate Medical Practices Inc

11 Wilbraham Rd, Baystate Mason Square, 
Springfield, MA 
 (76.6 mi)
413-794-3710
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

Andrew Balder is a Pediatrics specialist and an Internal Medicine provider in Springfield, Massachusetts. Dr. Balder and is rated as an Advanced provider by MediFind in the treatment of Ablepharon Macrostomia Syndrome. His top areas of expertise are Type 2 Diabetes (T2D), Opioid Use Disorder, Muenke Syndrome, and Goldenhar Disease. Dr. Balder is currently accepting new patients.

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