Learn About SHORT Syndrome
Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay, commonly known by the acronym SHORT syndrome, is a rare disorder that affects many parts of the body.
SHORT syndrome results from mutations in the PIK3R1 gene. This gene provides instructions for making one part (subunit) of an enzyme called PI3K, which plays a role in chemical signaling within cells. PI3K signaling is important for many cell activities, including cell growth and division, movement (migration) of cells, production of new proteins, transport of materials within cells, and cell survival. Studies suggest that PI3K signaling may be involved in the regulation of several hormones, including insulin, which helps control blood glucose levels. PI3K signaling may also play a role in the maturation of fat cells (adipocytes).
SHORT syndrome is a rare condition; its prevalence is unknown. Only a few affected individuals and families have been reported worldwide.
SHORT syndrome has an autosomal dominant pattern of inheritance, which means one copy of the altered PIK3R1 gene in each cell is sufficient to cause the disorder. In most cases, the condition results from a new mutation in the gene and occurs in people with no history of the disorder in their family. In other cases, an affected person inherits the mutation from one affected parent.
Anders Molven practices in Bergen, Norway. Mr. Molven is rated as an Elite expert by MediFind in the treatment of SHORT Syndrome. His top areas of expertise are SHORT Syndrome, Chronic Pancreatitis, Maturity Onset Diabetes of the Young, and Hereditary Pancreatitis.
Wataru Ogawa practices in Kobe, Japan. Mr. Ogawa is rated as an Elite expert by MediFind in the treatment of SHORT Syndrome. His top areas of expertise are Rabson-Mendenhall Syndrome, SHORT Syndrome, Isolated ACTH Deficiency, Gastrectomy, and Sleeve Gastrectomy.
UPMC Primary Care
Khyati Kadia, MD, specializes in family medicine and is certified by the American Board of Family Medicine. She practices at Altoona Family Physicians and is affiliated with UPMC Altoona. She completed her residency at University of Illinois College of Medicine at Rockford and medical degree at Windsor University School of Medicine. Dr. Kadia is rated as an Advanced provider by MediFind in the treatment of SHORT Syndrome. Her top areas of expertise are Kenny-Caffey Syndrome Type 2, Campomelic Dysplasia, Winchester Syndrome, and Russell-Silver Dwarfism.
Summary: Genetic lipodystrophy syndromes are extremely rare, orphan diseases with overall estimated prevalence of less than 2,000 in the United States. These rare disorders characterized by selective loss of adipose tissue and predisposition to insulin resistance and its metabolic complications diabetes, dyslipidemia and hepatic steatosis. Due to these metabolic problems, atherosclerotic vascular disease, ...
Published Date: December 01, 2013
Published By: National Institutes of Health