Short Rib Polydactyly Syndromes refers to a group of rare genetic disorders characterized by abnormalities in the development of the ribs and extra digits on the hands and/or feet. It is a form of skeletal dysplasia, also known as osteochondrodysplasia, which affects bone and cartilage growth.
This syndrome is typically diagnosed in infancy or childhood and encompasses a heterogeneous range of conditions, including Jeune syndrome, Ellis-van Creveld syndrome, and Sensenbrenner syndrome. Short Rib Polydactyly Syndromes are inherited in an autosomal recessive manner, meaning that both parents must carry the mutated gene for the condition to manifest in their offspring.
Individuals with Short Rib Polydactyly Syndromes often present with shortened ribs, which can lead to respiratory problems due to a reduced chest cavity. They may also exhibit extra digits on their hands and feet, a small thoracic cage, short stature, abnormal limb development, and various facial abnormalities.
Depending on the specific syndrome, additional physical anomalies may be present, such as renal and liver cysts or malformations, abnormal development of the heart and other organs, and intellectual disabilities. Due to the severity and complexity of the conditions within this syndrome, affected individuals often require ongoing medical care and support from a multidisciplinary team of specialists.
Genetic counseling and prenatal testing are essential for families with a history of Short Rib Polydactyly Syndromes to understand the risks of recurrence and make informed decisions about family planning. Management of these syndromes is primarily focused on addressing the specific symptoms and maximizing an individual's quality of life.
