atelosteogenesis type III

Atelosteogenesis type III is a rare skeletal dysplasia that mainly causes shortened limbs, unusual facial features, and abnormal bone growth seen on radiographic images. It is caused by changes in the FLNB gene that affect bone formation and is passed down in an autosomal dominant pattern, meaning that only one copy of the altered gene is enough to cause the condition. This disorder affects fewer than 1 in 1,000,000 people. The severity and specific features can vary considerably from person to person, so individuals may experience different symptoms and levels of impact.

Individuals with atelosteogenesis type III typically present with the hallmark features of short limbs and dysmorphic facial characteristics, with diagnostic radiographic findings supporting the clinical picture. While these core features are central to the diagnosis, there is notable variability in how the condition manifests, and not all affected individuals experience every feature to the same degree. Overall, the severity can range considerably, and some affected individuals may have milder or more pronounced skeletal abnormalities.

Atelosteogenesis type III is caused by pathogenic variants in the FLNB gene, which encodes a protein essential for normal skeletal development. The condition is inherited in an autosomal dominant manner, meaning that an affected individual has one altered copy of the gene, and there is a 50% chance of passing the variant to each child. That even within the same family, the severity and specific skeletal manifestations can vary considerably.

Currently, there are no foundational therapies or targeted treatments specifically approved for atelosteogenesis type III. Management focuses on supportive care and addressing individual symptoms, often through a multidisciplinary approach tailored to the patient's needs. Genetic counseling is recommended to help families understand the inheritance pattern and discuss reproductive options, and patients should discuss all treatment strategies with their healthcare team to determine the best approach for their situation.

Atelosteogenesis type III has a wide range of outcomes that depend on the severity of skeletal abnormalities, age at diagnosis, and access to specialized care. Outcomes described in medical literature continue to evolve as standards of care improve. Many individuals with this condition experience milder skeletal issues and may have a life expectancy that ranges from childhood to adulthood, while others with more severe forms face greater challenges. Modern management has improved quality of life for many, and families are encouraged to seek guidance from genetic counselors and specialists, as well as to consider support groups, to help plan ongoing care and address the unique needs of each individual.