Hypochondrogenesis Overview
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.
ETSU Physicians & Associates- Pediatrics
. Dr. Russi is rated as an Experienced provider by MediFind in the treatment of Hypochondrogenesis. His top areas of expertise are Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication.
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, Painful Swallowing, Swallowing Difficulty, Endoscopy, and Gastrectomy.
Childrens Hospital Of Orange County
Sunil Kamath is a Pediatrics specialist and a Pulmonary Medicine provider in Orange, California. Dr. Kamath is rated as an Advanced provider by MediFind in the treatment of Hypochondrogenesis. His top areas of expertise are Hypochondrogenesis, Pectus Excavatum, Asthma, and Koolen De Vries Syndrome.
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