Achondrogenesis is a group of severe disorders that affect cartilage and bone development. These conditions are characterized by a small body, short limbs, and other skeletal abnormalities. As a result of serious health problems, infants with achondrogenesis usually die before birth, are stillborn, or die soon after birth from respiratory failure. However, some infants have lived for a short time with intensive medical support.
Mutations in the TRIP11, SLC26A2, and COL2A1 genes cause achondrogenesis type 1A, type 1B, and type 2, respectively.
Achondrogenesis types 1A and 1B are rare genetic disorders; their incidence is unknown. Combined, achondrogenesis type 2 and hypochondrogenesis (a similar skeletal disorder) occur in 1 in 40,000 to 60,000 newborns.
Achondrogenesis type 1A and type 1B both have an autosomal recessive pattern of inheritance, which means both copies of the TRIP11 or SLC26A2 gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but do not show signs and symptoms of the condition.
Nancy Braverman is a Pediatrics specialist and a Medical Genetics expert in Baltimore, Maryland. Braverman is rated as an Elite expert by MediFind in the treatment of Achondrogenesis. She is also highly rated in 17 other conditions, according to our data. Her top areas of expertise are Chondrodysplasia Punctata Syndrome, X-Linked Chondrodysplasia Punctata 2, Zellweger Syndrome, and Acromesomelic Dysplasia. Braverman is currently accepting new patients.
Andrea Furga-Superti practices in Lausanne, Switzerland. Furga-Superti is rated as an Elite expert by MediFind in the treatment of Achondrogenesis. She is also highly rated in 51 other conditions, according to our data. Her top areas of expertise are Diastrophic Dysplasia, Achondrogenesis, Metatropic Dysplasia, and Acromesomelic Dysplasia Campailla Martinelli Type.
Erminia Di Pietro practices in Canada. Di Pietro is rated as an Elite expert by MediFind in the treatment of Achondrogenesis. She is also highly rated in 10 other conditions, according to our data. Her top areas of expertise are X-Linked Chondrodysplasia Punctata 2, Chondrodysplasia Punctata Syndrome, Achondrogenesis, and Acromesomelic Dysplasia Campailla Martinelli Type.
Summary: The goal of this registry is to collect medical information on individuals with rhizomelic chondrodysplasia punctata and closely related conditions. The study team hopes to learn more about these conditions and improve the care of people with it by establishing this registry.
Published Date: March 01, 2015Published By: National Institutes of Health