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.
Luca Sangiorgi is in Bologna, Italy. Sangiorgi is rated as an Elite expert by MediFind in the treatment of Achondrogenesis. He is also highly rated in 22 other conditions, according to our data. His top areas of expertise are Osteochondroma, Hereditary Multiple Osteochondromas, Maffucci Syndrome, and Ollier Disease.
Kasiani Myers is a Pediatric Hematologist Oncology specialist and a Hematologist in Cincinnati, Ohio. Dr. Myers has been practicing medicine for over 18 years and is rated as an Elite doctor by MediFind in the treatment of Achondrogenesis. She is also highly rated in 25 other conditions, according to our data. Her top areas of expertise are Shwachman-Diamond Syndrome, Achondrogenesis, Acromesomelic Dysplasia Maroteaux Type, and Acromesomelic Dysplasia Campailla Martinelli Type. She is licensed to treat patients in Ohio. Dr. Myers is currently accepting new patients.
Nancy Braverman is a Pediatrics specialist and a Medical Genetics doctor in Baltimore, Maryland. Dr. Braverman is rated as an Elite doctor by MediFind in the treatment of Achondrogenesis. She is also highly rated in 14 other conditions, according to our data. Her top areas of expertise are Chondrodysplasia Punctata Syndrome, X-Linked Chondrodysplasia Punctata 2, Rhizomelic Syndrome, and Acromesomelic Dysplasia Campailla Martinelli Type. She is licensed to treat patients in Maryland. Dr. Braverman is currently accepting new patients.
Published Date:updated Last, March
Published By: National Institutes of Health