Atelosteogenesis type 1 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. Characteristic facial features include a prominent forehead, wide-set eyes (hypertelorism), an upturned nose with a grooved tip, and a very small lower jaw and chin (micrognathia). Affected individuals may also have an opening in the roof of the mouth (a cleft palate). Males with this condition can have undescended testes.
Mutations in the FLNB gene cause atelosteogenesis type 1. 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. Filamin B 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.
Atelosteogenesis type 1 is a rare disorder; its exact prevalence is unknown. Only a few dozen 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.
Beata Kusnierz-Wolska is in Warsaw, Poland. Kusnierz-Wolska is rated as an Elite expert by MediFind in the treatment of Atelosteogenesis Type 1. She is also highly rated in 8 other conditions, according to our data. Her top areas of expertise are Atelosteogenesis Type 1, Nijmegen Breakage Syndrome, Primary Immunodeficiency, and Severe Combined Immunodeficiency.
Krystyna Chrzanowska is in Warsaw, Poland. Chrzanowska is rated as an Elite expert by MediFind in the treatment of Atelosteogenesis Type 1. She is also highly rated in 26 other conditions, according to our data. Her top areas of expertise are Nijmegen Breakage Syndrome, Atelosteogenesis Type 1, Telangiectasia, and Cranioectodermal Dysplasia.
Srdjan Pasic is in Belgrade, Serbia. Pasic is rated as a Distinguished expert by MediFind in the treatment of Atelosteogenesis Type 1. They are also highly rated in 7 other conditions, according to our data. Their top areas of expertise are Atelosteogenesis Type 1, Nijmegen Breakage Syndrome, Primary Immunodeficiency, and Hemophagocytic Lymphohistiocytosis.
Published Date:updated Last, September
Published By: National Institutes of Health