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 mutations in either the PYCR1 or ALDH18A1 genes. De Barsy syndrome is inherited in an autosomal recessive manner. There are no standardized treatment protocols; treatment generally focuses on the signs and symptoms present in each individual.
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What are the alternative names for De Barsy Syndrome?
  • Corneal clouding, cutis laxa and intellectual disability
  • Progeroid syndrome of De Barsy
  • Cutis laxa growth deficiency syndrome
  • Progeroid syndrome, De Barsy type
  • Cutis laxa-corneal clouding-intellectual disability syndrome
Who are the top De Barsy Syndrome Local Doctors?
Distinguished
Highly rated in
29
conditions

Institute For Medical Genetics And Human Genetics

Goettingen, NI, DE 

Uwe Kornak is in Goettingen, Germany. Kornak is rated as a Distinguished expert by MediFind in the treatment of De Barsy Syndrome. He is also highly rated in 29 other conditions, according to our data. His top areas of expertise are Cutis Laxa, Wrinkly Skin Syndrome, Autosomal Recessive Cutis Laxa Type 1, and Gerodermia Osteodysplastica.

Distinguished
Highly rated in
5
conditions

Heinrich Heine University

Duesseldorf, NW, DE 

Bjorn Fischer is in Duesseldorf, Germany. Fischer is rated as a Distinguished expert by MediFind in the treatment of De Barsy Syndrome. They are also highly rated in 5 other conditions, according to our data. Their top areas of expertise are Autosomal Recessive Cutis Laxa Type 1, De Barsy Syndrome, Cutis Laxa, and Wrinkly Skin Syndrome.

 
 
 
 
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Distinguished
Highly rated in
98
conditions
Vascular Surgery

The University Of Vermont Medical Center

Burlington, VT 

Julie Lahiri is a Vascular Surgeon in Burlington, Vermont. Dr. Lahiri has been practicing medicine for over 25 years and is rated as a Distinguished doctor by MediFind in the treatment of De Barsy Syndrome. She is also highly rated in 98 other conditions, according to our data. Her top areas of expertise are Campomelia Cumming Type, Oculofaciocardiodental Syndrome, Yunis-Varon Syndrome, and Early Infantile Epileptic Encephalopathy. She is board certified in Vascular Surgery and licensed to treat patients in Vermont. Dr. Lahiri is currently accepting new patients in some locations.

What are the latest De Barsy Syndrome Clinical Trials?
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What are the Latest Advances for De Barsy Syndrome?
A proposal of rehabilitative approach in the rare disease "De Barsy Syndrome": case report.
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