congenitally short costocoracoid ligament

Congenital shortness of the costocoracoid ligament is a very rare anomaly that results in the scapula being fixed to the first rib. This fixation leads to a distinctive cosmetic appearance, including rounding of the shoulders and a loss of the normal anterior clavicular contour. The condition is inherited in an autosomal dominant manner, meaning a single copy of the genetic change is sufficient to cause the anomaly. It is considered very rare, affecting fewer than 1 in 1,000,000 people.

Individuals with this condition typically exhibit a fixed scapula that results in a rounded shoulder appearance and an altered front view of the clavicle. These features are often recognized during early childhood or at a routine physical examination. Because the presentation primarily involves visible cosmetic changes rather than systemic symptoms, the condition is usually identified through careful clinical evaluation of the shoulder anatomy. Not all individuals experience all features, and severity varies considerably.

Although the exact genetic basis for congenitally short costocoracoid ligament has not been fully identified, the condition follows an autosomal dominant inheritance pattern. This means that having a single altered copy of the gene is enough to manifest the anomaly, and an affected individual has a 50% chance of passing on the trait to each child. Variability in the extent of the deformity is observed among those who inherit the condition. Genetic counseling is recommended to help families understand the implications for family planning.

Currently, management focuses on supportive care and symptom management. Treatment strategies are individualized and may include interventions aimed at addressing any functional or cosmetic concerns, often through consultation with a multidisciplinary team. Since there are no specific foundational or targeted therapies available for this condition, patients are encouraged to discuss personalized management options with their healthcare providers. Genetic counseling is also recommended to help families understand potential inheritance risks.

The overall outlook for individuals with congenitally short costocoracoid ligament is generally favorable, as the condition does not typically impact overall health or life expectancy. Outcomes vary depending on the individual’s specific presentation and access to supportive, specialized care. Outcomes described in medical literature continue to evolve as standards of care improve. Patients and families are encouraged to connect with specialists and genetic counselors for tailored guidance and support.