Short Rib Polydactyly Syndrome (SRPS) is a rare genetic disorder characterized by multiple anomalies that primarily affect the skeleton and limbs of individuals. It is classified as a type of short rib thoracic dysplasia, a heterogeneous group of skeletal dysplasias that present with short ribs and a narrow thorax, leading to severe respiratory problems and often resulting in death in infancy or early childhood.
Individuals with SRPS typically exhibit short stature and a short neck, along with a narrow chest and prominent abdomen due to the underdeveloped ribs and short bones in the spine. This results in respiratory complications, as the diminished space in the chest cavities restricts proper lung growth and function.
Polydactyly, a condition characterized by the presence of extra fingers or toes, is another prominent feature of SRPS, giving the syndrome its name. The digits are usually malformed and may vary in size and functionality. Additionally, individuals with SRPS may have abnormalities in their facial features, such as a small chin, upturned nostrils, and a flat nasal bridge.
SRPS is caused by genetic mutations and is typically inherited in an autosomal recessive manner. However, certain cases can be attributed to spontaneous mutations. The prognosis for individuals with SRPS is generally poor, with significant morbidity and mortality, primarily due to respiratory complications and associated congenital anomalies.
Management of SRPS involves supportive care focusing on respiratory assistance, addressing feeding difficulties, and early intervention with physical and occupational therapy to promote functional abilities. Genetic counseling may be beneficial for affected families to understand the risk of passing on the condition and consider family planning options.
