Ablepharon Macrostomia Syndrome
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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?
Experienced in Ablepharon Macrostomia Syndrome
Internal Medicine
Experienced in Ablepharon Macrostomia Syndrome
Internal Medicine

Bassett Health Center Cobleskill

136 Parkway Drive, 
Cobleskill, NY 
Languages Spoken:
English
Offers Telehealth

John Novak is a primary care provider, practicing in Internal Medicine in Cobleskill, New York. Dr. Novak is rated as an Experienced provider by MediFind in the treatment of Ablepharon Macrostomia Syndrome. He is also highly rated in 14 other conditions, according to our data. His clinical expertise encompasses Relapsing Multiple Sclerosis (RMS), Enlarged Prostate (BPH), Type 2 Diabetes (T2D), and Lymphangitis.

Experienced in Ablepharon Macrostomia Syndrome
Family Medicine
Experienced in Ablepharon Macrostomia Syndrome
Family Medicine

Bassett Health Center Little Falls Primary Care

170 Burwell Street, 
Little Falls, NY 
Languages Spoken:
English

Amy Grace is a primary care provider, practicing in Family Medicine in Little Falls, New York. Dr. Grace is rated as an Experienced provider by MediFind in the treatment of Ablepharon Macrostomia Syndrome. She is also highly rated in 12 other conditions, according to our data. Her clinical expertise encompasses Hypothyroidism, Obesity in Children, Enlarged Prostate (BPH), and Glucocorticoid-Remediable Aldosteronism.

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

Healthcare Associates

330 Brookline Avenue, East Shapiro 6, 
Boston, MA 
Languages Spoken:
English
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. He is also highly rated in 42 other conditions, according to our data. His clinical expertise encompasses Cytochrome P450 Oxidoreductase Deficiency, Ascher Syndrome, Acromegaloid Facial Appearance Syndrome, and Fraser Syndrome. Dr. Kim is board certified in American Board Of Internal Medicine.

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