De Barsy Syndrome
It is possible that the main title of the report De Barsy Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
De Barsy syndrome is a rare genetic disorder characterized by eye abnormalities, growth retardation, intellectual disability, a prematurely-aged appearance (progeroid features), and loose (lax), wrinkled, sagging, redundant skin that lacks elasticity (cutis laxa). Distinctive facial features, skeletal malformations, and neurological abnormalities can also occur. The specific symptoms present and the severity of de Barsy syndrome can vary greatly from one individual to another. Some cases of de Barsy syndrome have been linked to mutations in either the PYCR1 or ALDH18A1 genes; in other cases, a specific genetic mutation has not yet been identified. De Barsy syndrome is inherited in an autosomal recessive manner.
De Barsy syndrome was first reported in the medical literature by Dr. De Barsy in 1968 in one patient. The disorder is now classified as a form of cutis laxa and also known as autosomal recessive cutis laxa type 3. Cutis laxa is a group of rare disorders that may occur in several inherited (congenital) forms or acquired at some point during life (acquired cutis laxa). This group of disorders involves a wide spectrum of symptoms and signs that result from defects in connective tissue, the material between cells of the body that gives the tissue form and strength. Connective tissue is found throughout the body in muscles, joints, skin and other organs. Cutis laxa is characterized by skin that is loose (lax), wrinkled, sagging, redundant, and lacking elasticity (inelastic). When stretched, inelastic skin returns to place abnormally slowly.
Cutis laxa syndromes were once broken down mainly by clinical characteristics, but are now classified based upon the specific mutation present. Consequently, individuals with de Barsy syndrome caused by a PYCR1 mutation are said to have PYCR1-related cutis laxa (autosomal recessive cutis laxa type 3B) and individuals with de Barsy syndrome caused by an ALDH18A1 mutation are said to have ALDH18A1-related cutis laxa (autosomal recessive cutis laxa type 3A). NORD has a general report on cutis laxa that explains the various subtypes and genetics of cutis laxa. For more information, choose "cutis laxa" as your search term in the Rare Disease Database.
In ALDH18A1-related de Barsy syndrome, approximately one third of ALDH18A1 mutation carriers show biochemical signs of metabolic disease due to ALDH18A1 related abnormal purine synthesis in blood. Abnormal amino acid levels include variable degrees of decrease in arginine, ornithine, citrulline and sometimes low proline concentrations. Young patients might present with symptoms of elevated levels of ammonia in the blood (hyperammonemia) and secondary urea cycle disturbance. It is extremely important to screen for the specific purine synthesis defect related metabolites in suspected ALDH18A1-related cases. These metabolites are not always abnormal and might show variable degree of abnormalities. Ammonia elevation is usually not exceeding a second fold increase. In case of abnormal results there is a potential dietary and amino acid supplementation therapy.
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
One AMS Circle
Bethesda, MD 20892-3675
Cutis Laxa Internationale
122 Clos des Ecoliers
Saint Cergues, 74140
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024