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?
Distinguished in Barber Say Syndrome
Denny Schanze
Distinguished in Barber Say Syndrome
Denny Schanze
Leipziger Str. 44, 
Magdeburg, ST, DE 

Denny Schanze practices in Magdeburg, Germany. Mr. Schanze is rated as a Distinguished expert by MediFind in the treatment of Barber Say Syndrome. His top areas of expertise are Fraser Syndrome, Manitoba Oculotrichoanal Syndrome, Noonan Syndrome, and RASopathies.

Distinguished in Barber Say Syndrome
Laura Mazzanti
Distinguished in Barber Say Syndrome
Laura Mazzanti
Bologna, IT 

Laura Mazzanti practices in Bologna, Italy. Ms. Mazzanti is rated as a Distinguished expert by MediFind in the treatment of Barber Say Syndrome. Her top areas of expertise are Turner Syndrome, RASopathies, Noonan Syndrome, Intersex, and Hormone Replacement Therapy (HRT).

 
 
 
 
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Distinguished in Barber Say Syndrome
Nathalie A. Roche
Distinguished in Barber Say Syndrome
Nathalie A. Roche
Gent, VLG, BE 

Nathalie Roche practices in Gent, Belgium. Ms. Roche is rated as a Distinguished expert by MediFind in the treatment of Barber Say Syndrome. Her top areas of expertise are Barber Say Syndrome, Hirsutism in Women, Facial Ectodermal Dysplasia, Actinomycosis, and Intrauterine Device Insertion.

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