Learn About Boomerang Dysplasia

What is the definition of Boomerang Dysplasia?

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.

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What are the causes of Boomerang Dysplasia?

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.

How prevalent is Boomerang Dysplasia?

Boomerang dysplasia is a rare disorder; its exact prevalence is unknown. Approximately 10 affected individuals have been identified.

Is Boomerang Dysplasia an inherited disorder?

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.

Who are the top Boomerang Dysplasia Local Doctors?
Distinguished
Highly rated in
10
conditions

Beijing Key Laboratory For Genetic Research Of Skeletal Deformity

Beijing Anzhen Hospital, Capital Medical University, Lung And Blood Vessel Diseases 
Beijing, CN 10002

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.

Distinguished
Highly rated in
1
conditions

Key Laboratory Of Endocrinology

National Commission Of Health, Peking Union Medical College Hospital, Chinese Academy Of Medical Sciences And Peking Union Medical College 
Beijing, CN 

Lijia Cui is in Beijing, China. Cui is rated as a Distinguished expert by MediFind in the treatment of Boomerang Dysplasia. They are also highly rated in 1 other condition, according to our data. Their top areas of expertise are Boomerang Dysplasia, Hypophosphatemia, Camurati-Engelmann Disease, and Osteomalacia.

 
 
 
 
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Distinguished
Highly rated in
26
conditions

Beijing Key Laboratory For Genetic Research Of Skeletal Deformity

China Agricultural University 
Beijing, CN 10009

Nan Wu is in Beijing, China. Wu is rated as a Distinguished expert by MediFind in the treatment of Boomerang Dysplasia. She is also highly rated in 26 other conditions, according to our data. Her top areas of expertise are SAPHO Syndrome, Boomerang Dysplasia, Klippel-Feil Syndrome, and Osteomyelitis.

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Who are the sources who wrote this article ?

Published Date:updated Last, September

Published By: National Institutes of Health

What are the Latest Advances for Boomerang Dysplasia?

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.