Learn About Hypochondrogenesis
Achondrogenesis is a group of severe disorders that affect cartilage and bone development. These conditions are characterized by skeletal abnormalities that cause serious health problems. As a result, most infants with achondrogenesis die before birth or soon after, often due to respiratory failure.
Variants (also called mutations) in different genes cause the three main types of achondrogenesis.
Achondrogenesis occurs in approximately 1 in 40,000 to 60,000 newborns.
Achondrogenesis type 1A and type 1B both have an autosomal recessive pattern of inheritance. A variant must be present in both copies of the TRIP11 gene in each cell to cause achondrogenesis type 1A, while a variant must be present in both copies of the SLC26A2 gene in each cell to cause achondrogenesis type 1B. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.
Troy Simmons is a Podiatric Surgeon in Portland, Oregon. Dr. Simmons is rated as an Experienced provider by MediFind in the treatment of Hypochondrogenesis. His top areas of expertise are Hammer Toe, High Arch, Claw Foot, and Tendinitis. Dr. Simmons is currently accepting new patients.
The Milton S Hershey Medical Center Physicians Group
Nicholas Inverso is a Gastroenterologist in Hershey, Pennsylvania. Dr. Inverso is rated as a Distinguished provider by MediFind in the treatment of Hypochondrogenesis. His top areas of expertise are Hypochondrogenesis, Swallowing Difficulty, Painful Swallowing, Endoscopy, and Gastrectomy.
Primary Care Group Of West Georgia
Hermogenes Pagsisihan is a primary care provider, practicing in Family Medicine in Carrollton, Georgia. Dr. Pagsisihan is rated as an Experienced provider by MediFind in the treatment of Hypochondrogenesis. His top areas of expertise are Chronic Cough, Hypertension, Familial Hypertension, and Glucocorticoid-Remediable Aldosteronism. Dr. Pagsisihan is currently accepting new patients.
Summary: There are relatively few data available on type II collagen disorders, and evidence is lacking on the disease course in relation to symptoms and development of complications, the level of actual disease burden over time as well as data to support identification of possible risk factors. This study aims to build a natural history data set through collection of a number of clinical, imaging, and lab...
Published Date: December 19, 2024
Published By: National Institutes of Health