De Barsy Syndrome Overview

Save information for later
Sign Up

Learn About De Barsy Syndrome

What is the definition of De Barsy Syndrome?
De Barsy syndrome is a rare genetic disorder originally described in 1968 and classified as a form of cutis laxa. Cutis laxa is characterized by skin that is loose (lax), wrinkled, sagging, and lacking elasticity. The specific symptoms and the severity of De Barsy syndrome can vary greatly. Features that may be seen include eye abnormalities, growth abnormalities, and a prematurely-aged appearance. Distinctive facial features, skeletal malformations, and neurological abnormalities may also occur. Some cases of De Barsy syndrome have been linked to genetic changes in either the PYCR1 or ALDH18A1 genes. De Barsy syndrome is inherited in an autosomal recessive manner.
What are the alternative names for De Barsy Syndrome?
  • De Barsy syndrome
  • Corneal clouding, cutis laxa and intellectual disability
  • Cutis laxa growth deficiency syndrome
  • Cutis laxa-corneal clouding-intellectual disability syndrome
  • Progeroid syndrome of De Barsy
  • Progeroid syndrome, De Barsy type
Who are the top De Barsy Syndrome Local Doctors?
Elite in De Barsy Syndrome
Uwe Kornak
Elite in De Barsy Syndrome
Uwe Kornak
Goettingen, NI, DE 

Uwe Kornak practices in Goettingen, Germany. Kornak and is rated as an Elite expert by MediFind in the treatment of De Barsy Syndrome. His top areas of expertise are De Barsy Syndrome, Cutis Laxa, Autosomal Recessive Cutis Laxa Type 1, and Osteopetrosis.

Elite in De Barsy Syndrome
Marco Castori
Elite in De Barsy Syndrome
Marco Castori
San Giovanni Rotondo, IT 

Marco Castori practices in San Giovanni Rotondo, Italy. Castori and is rated as an Elite expert by MediFind in the treatment of De Barsy Syndrome. His top areas of expertise are Ehlers-Danlos Syndrome (EDS), De Barsy Syndrome, Hypermobile Joints, Autosomal Recessive Cutis Laxa Type 1, and Osteotomy.

 
 
 
 
Learn about our expert tiers
Learn More
Elite in De Barsy Syndrome
Bjorn Fischer
Elite in De Barsy Syndrome
Bjorn Fischer
Raman Spectroscopic Services, Necklenbroicher Str. 22, 
Meerbusch, NW, DE 

Bjorn Fischer practices in Meerbusch, Germany. Fischer and is rated as an Elite expert by MediFind in the treatment of De Barsy Syndrome. Their top areas of expertise are De Barsy Syndrome, Autosomal Recessive Cutis Laxa Type 1, Cutis Laxa, and Wrinkly Skin Syndrome.

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

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