De Barsy Syndrome Overview

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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. Mr. Kornak 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 Gerodermia Osteodysplastica.

Elite in De Barsy Syndrome
Marco Castori
Elite in De Barsy Syndrome
Marco Castori
Foggia, IT 

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

 
 
 
 
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Advanced in De Barsy Syndrome
Dr. Alvaro H. Russi
Pediatrics
Advanced in De Barsy Syndrome
Dr. Alvaro H. Russi
Pediatrics

ETSU Physicians & Associates- Pediatrics

325 N State Of Franklin Rd, 
Johnson City, TN 
423-439-7320
Languages Spoken:
English
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. Dr. Russi is rated as an Advanced provider by MediFind in the treatment of De Barsy Syndrome. His top areas of expertise are Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication.

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