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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
Elite in De Barsy Syndrome
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
Elite in De Barsy Syndrome
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 Ehlers-Danlos Syndrome (EDS), De Barsy Syndrome, Hypermobile Joints, Autosomal Recessive Cutis Laxa Type 1, and Osteotomy.

 
 
 
 
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Philip L. Goolsby
Experienced in De Barsy Syndrome
Family Medicine
Experienced in De Barsy Syndrome
Family Medicine

Aurora Family Medicine

1565 Allouez Ave, 
Green Bay, WI 
Languages Spoken:
English

Philip Goolsby is a primary care provider, practicing in Family Medicine in Green Bay, Wisconsin. Dr. Goolsby is rated as an Experienced provider by MediFind in the treatment of De Barsy Syndrome. His top areas of expertise are Monoclonal Gammopathy of Undetermined Significance (MGUS), Schnitzler Syndrome, Movement Disorders, and Parkinson's Disease.

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