Boomerang dysplasia is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Pronounced bowing of the upper leg bones (femurs) gives them a "boomerang" shape.
Mutations in the FLNB gene cause boomerang dysplasia. The FLNB gene provides instructions for making a protein called filamin B. This protein helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin B attaches (binds) to another protein called actin and helps the actin to form the branching network of filaments that makes up the cytoskeleton. It also links actin to many other proteins to perform various functions within the cell, including the cell signaling that helps determine how the cytoskeleton will change as tissues grow and take shape during development.
Boomerang dysplasia is a rare disorder; its exact prevalence is unknown. Approximately 10 affected individuals have been identified.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Zhihong Wu is in Beijing, China. Wu is rated as a Distinguished expert by MediFind in the treatment of Boomerang Dysplasia. They are also highly rated in 10 other conditions, according to our data. Their top areas of expertise are Boomerang Dysplasia, SAPHO Syndrome, Scoliosis, and Klippel-Feil Syndrome.
Nan Wu is in Haidian, China. Wu is rated as a Distinguished expert by MediFind in the treatment of Boomerang Dysplasia. She is also highly rated in 31 other conditions, according to our data. Her top areas of expertise are SAPHO Syndrome, Boomerang Dysplasia, Osteomyelitis, and Scoliosis.
Guixing Qiu is in Beijing, China. Qiu is rated as a Distinguished expert by MediFind in the treatment of Boomerang Dysplasia. They are also highly rated in 17 other conditions, according to our data. Their top areas of expertise are Scoliosis, Boomerang Dysplasia, Adolescent Idiopathic Scoliosis, and Klippel-Feil Syndrome.
Published Date:updated Last, September
Published By: National Institutes of Health
There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.