brachydactyly type C

Brachydactyly type C is a skeletal condition that primarily affects the bones of the hand, leading to shortened and abnormally shaped fingers. It is associated with alterations in the GDF5 gene, which plays a critical role in joint and bone formation. The condition is inherited in an autosomal dominant pattern and results in a spectrum of hand abnormalities; however, precise prevalence estimates are not well established. With variability in the degree of presentation, affected individuals may notice differences in hand appearance and function from an early age.

The clinical features of brachydactyly type C largely involve the hand. Most individuals exhibit characteristic findings such as shortened second and third fingers, pseudoepiphyses (abnormal growth centers), and cone-shaped epiphyses of the middle phalanges. Additional features reported include ulnar deviation of the affected fingers, triangular shaped phalanges, and even instances of postaxial hand polydactyly. Not all individuals experience all features, and severity varies considerably between patients.

Brachydactyly type C is linked to pathogenic variants in the GDF5 gene, which is essential for normal bone and joint development. The condition is inherited in an autosomal dominant manner, meaning that inheriting one altered copy of the gene is enough to lead to the characteristic skeletal abnormalities. While the expression of symptoms can vary among family members, genetic counseling is recommended to help families understand the risks and the potential for variable expressivity in each case.

Currently, management of brachydactyly type C focuses on supportive care and symptom management. As there are no FDA-approved or foundational therapies specific to this condition, treatment is tailored to the individual and typically involves a multidisciplinary approach. Regular surveillance and monitoring by orthopedic specialists are important to address functional concerns as they arise. Additionally, genetic counseling is recommended to guide family planning and provide further understanding of the condition.

The prognosis for brachydactyly type C is variable, with some individuals presenting with only mild cosmetic differences while others may experience more pronounced hand function variations. Outcomes described in medical literature continue to evolve as standards of care improve, and many individuals lead active lives with appropriate supportive management. The condition may remain stable or require adjustments in management over time based on symptom severity, and families are encouraged to consult specialists and genetic counselors for personalized guidance.