Barber Say Syndrome Overview

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Learn About Barber Say Syndrome

What is the definition of Barber Say Syndrome?
Barber Say syndrome is a very rare condition characterized by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion), and a large mouth (macrostomia). Barber Say syndrome has a variable presentation, with reports of both mild and severe cases. At least some cases of Barber Say syndrome are caused by genetic changes in the TWIST2 gene that is inherited in an autosomal dominant pattern.
What are the alternative names for Barber Say Syndrome?
  • Barber Say syndrome
  • Hypertrichosis atrophic skin ectropion macrostomia
  • Hypertrichosis, atrophic skin, ectropion, and macrostomia
Who are the top Barber Say Syndrome Local Doctors?
Amy Grace
Experienced in Barber Say Syndrome
Dr. Amy Grace
Family Medicine
Experienced in Barber Say Syndrome
Dr. Amy Grace
Family Medicine

Bassett Health Center Little Falls Primary Care

170 Burwell Street, 
Little Falls, NY 
315-823-4546
Languages Spoken:
English
See accepted insurances

. Dr. Grace is rated as an Experienced provider by MediFind in the treatment of Barber Say Syndrome. Her top areas of expertise are Hypothyroidism, Obesity in Children, Enlarged Prostate (BPH), and Familial Hypertension.

John Novak
Experienced in Barber Say Syndrome
Dr. John Novak
Internal Medicine
Experienced in Barber Say Syndrome
Dr. John Novak
Internal Medicine

Bassett Health Center Cobleskill

136 Parkway Drive, 
Cobleskill, NY 
518-234-2555
Languages Spoken:
English
See accepted insurances
Offers Telehealth

. Dr. Novak is rated as an Experienced provider by MediFind in the treatment of Barber Say Syndrome. His top areas of expertise are Relapsing Multiple Sclerosis (RMS), Enlarged Prostate (BPH), Type 2 Diabetes (T2D), and Lymphangitis.

 
 
 
 
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Hans S. Kim
Distinguished in Barber Say Syndrome
Dr. Hans S. Kim
Internal Medicine
Distinguished in Barber Say Syndrome
Dr. Hans S. Kim
Internal Medicine

Healthcare Associates

330 Brookline Avenue, East Shapiro 6, 
Boston, MA 
617-754-9600
Languages Spoken:
English
See accepted insurances
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 Barber Say Syndrome. His top areas of expertise are Craniofacial-Deafness-Hand Syndrome, Deafness Craniofacial Syndrome, Weill-Marchesani Syndrome, and Acromegaloid Facial Appearance Syndrome.

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