Learn About Atelosteogenesis Type 1

What is the definition of Atelosteogenesis Type 1?

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.

Save information for later
Sign Up
What are the causes of Atelosteogenesis Type 1?

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.

How prevalent is Atelosteogenesis Type 1?

Atelosteogenesis type 1 is a rare disorder; its exact prevalence is unknown. Only a few dozen affected individuals have been identified.

Is Atelosteogenesis Type 1 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 Atelosteogenesis Type 1 Local Doctors?
Elite
Highly rated in
8
conditions

The Children's Memorial Health Institute

Children's Memorial Health Institute, 20 Dzieci Polskich Ave 
Warsaw, MZ, PL 04730

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.

Elite
Highly rated in
26
conditions

The Children's Memorial Health Institute

Warsaw, MZ, PL 04730

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.

 
 
 
 
Learn about our expert tiers
Learn more
Distinguished
Highly rated in
7
conditions

University Of Belgrade

Faculty Of Medicine 
Belgrade, SE, RS 

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.

What are the latest Atelosteogenesis Type 1 Clinical Trials?
Clinical Open-label Phase 2 Study of Low Dose Treosulfan Based Conditioning Regimen Efficacy in Hematopoietic Stem Cell Transplantation for Children With Nijmegen Breakage Syndrome
Match to trials
Find the right clinical trials for you in under a minute
Get started
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 Atelosteogenesis Type 1?
Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and NBN Founder Variant c.657_661del5.
Treosulfan-Based Conditioning Regimen in Haematopoietic Stem Cell Transplantation with TCRαβ/CD19 Depletion in Nijmegen Breakage Syndrome.
Tired of the same old research?
Check Latest Advances