Shprintzen-Goldberg Syndrome synonyms
What other names are the Shprintzen-Goldberg Syndrome known by? Synonyms and other terms with which Shprintzen-Goldberg Syndrome is known.
Shprintzen-Goldberg Syndrome, also known as Shprintzen-Goldberg craniosynostosis syndrome or SG syndrome, is a rare genetic disorder that affects various parts of the body. It was first described by Dr. Robert J. Shprintzen and Dr. Michael M. Goldberg in the late 1970s. This syndrome is characterized by a combination of craniofacial, skeletal, and cardiovascular abnormalities.
Individuals with Shprintzen-Goldberg Syndrome often exhibit distinctive facial features, including a long and narrow face, a high forehead, down-slanting palpebral fissures (the opening between the eyelids), and a small chin. They may also have a highly arched palate, dental problems, and a nasal voice. Additionally, individuals with this syndrome may experience skeletal abnormalities such as scoliosis, joint hypermobility, and long, slender fingers and toes.
The cardiovascular manifestations of Shprintzen-Goldberg Syndrome can vary, but they commonly include aortic aneurysms or dilatation, mitral valve prolapse, and other heart defects. These cardiovascular issues can pose significant health risks and require careful monitoring and management.
Other potential features associated with Shprintzen-Goldberg Syndrome include intellectual disability, developmental delays, and problems with coordination and motor skills. Some individuals may also have gastrointestinal issues, such as gastroesophageal reflux disease (GERD) or constipation.
The genetic cause of Shprintzen-Goldberg Syndrome is not fully understood, but it is believed to be primarily caused by mutations in the SKI gene. This gene provides instructions for making a protein involved in the development and maintenance of various tissues in the body. Most cases of Shprintzen-Goldberg Syndrome occur sporadically, meaning they are not inherited from parents.
The management of Shprintzen-Goldberg Syndrome involves a multidisciplinary approach, with treatment tailored to the individual's specific symptoms and needs. This may include surgical interventions for craniofacial or cardiovascular issues, speech therapy, physical therapy, and educational support for developmental delays.
