SHORT SyndromeSymptoms, Doctors, Treatments, Advances & More
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 practicing medicine in Bergen, Norway. Mr. Molven is rated as an Elite expert by MediFind in the treatment of SHORT Syndrome. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses SHORT Syndrome, Chronic Pancreatitis, Maturity Onset Diabetes of the Young, and Hereditary Pancreatitis.
Wataru Ogawa practices practicing medicine in Kobe, Japan. Mr. Ogawa is rated as an Elite expert by MediFind in the treatment of SHORT Syndrome. He is also highly rated in 22 other conditions, according to our data. His clinical expertise encompasses Rabson-Mendenhall Syndrome, SHORT Syndrome, Isolated ACTH Deficiency, Gastrectomy, and Sleeve Gastrectomy.
Access Health & Avera Medical Group Family Health Center — Mitchell
Dr. Jon Olegario is an internal medicine physician at Avera Medical Group Internal Medicine Mitchell. Dr. Olegario is rated as an Advanced provider by MediFind in the treatment of SHORT Syndrome. He is also highly rated in 51 other conditions, according to our data. His clinical expertise encompasses High Cholesterol, Sitosterolemia, Renovascular Hypertension, and Chronic Cough. Dr. Olegario is board certified in American Board Of Internal Medicine.
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