AchondrogenesisSymptoms, Doctors, Treatments, Advances & More
Learn About Achondrogenesis
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.
Nemours Children's Hospital, Delaware
Dr. Michael B. Bober is a pediatric geneticist and an authority on skeletal dysplasias, brittle bone disease, primordial dwarfism and other genetic disorders of the skeleton. He is a frequent guest lecturer, accomplished author and consultant for numerous television networks, here and abroad. Dr. Bober is rated as an Elite provider by MediFind in the treatment of Achondrogenesis. He is also highly rated in 70 other conditions, according to our data. His clinical expertise encompasses Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2), Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1), Achondroplasia, Osteotomy, and Adenoidectomy. Dr. Bober is board certified in American Board Of Medical Genetics And Genomics.
Nancy Braverman is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Baltimore, Maryland. Dr. Braverman is rated as an Elite provider by MediFind in the treatment of Achondrogenesis. She is also highly rated in 14 other conditions, according to our data. Her clinical expertise encompasses Zellweger Syndrome, Chondrodysplasia Punctata Syndrome, X-Linked Chondrodysplasia Punctata 2, and Acromesomelic Dysplasia.
Wedad Fallatah is a Medical Genetics provider practicing medicine in Baltimore, Maryland. Dr. Fallatah is rated as an Elite provider by MediFind in the treatment of Achondrogenesis. She is also highly rated in 10 other conditions, according to our data. Her clinical expertise encompasses Chondrodysplasia Punctata Syndrome, X-Linked Chondrodysplasia Punctata 2, Achondrogenesis, and Acromesomelic Dysplasia.
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: December 19, 2024
Published By: National Institutes of Health