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Shprintzen-Goldberg Syndrome

What is Shprintzen-Goldberg syndrome?

Shprintzen-Goldberg syndrome is a rare condition affecting many parts of the body. It involves a disorder of the connective tissue, the material inside your body that supports many of its parts. Shprintzen-Goldberg syndrome is also marked by unique facial features and skeletal and nervous system abnormalities.

One common feature of Shprintzen-Goldberg syndrome is craniosynostosis, a birth defect in which skull bones fuse or join together too early, preventing the skull from growing normally. This can cause problems with normal brain and skull growth. 

The condition may be misdiagnosed as Marfan syndrome, another connective tissue disorder resulting in similar signs and symptoms. Intellectual disability is more likely to occur in those with Shprintzen-Goldberg syndrome, while heart problems are more likely to occur in Marfan syndrome.

What are the signs and symptoms of Shprintzen-Goldberg syndrome?

The traits of Shprintzen-Goldberg syndrome are similar to the traits of Marfan syndrome and include:

  • A tall, lanky body with increased joint mobility, scoliosis, long flat feet, and long fingers. 
  • Abnormal head shape
  • Either a sunken chest or one that bulges outward
  • Curvature of the spine
  • Long, slender arms, legs and fingers
  • One or more permanently bent fingers
  • Delayed development
  • Mild to moderate intellectual disabilities

What causes Shprintzen-Goldberg syndrome?

Most cases are caused by a defect in a gene that affects a protein instrumental in the development of many tissues, including the skull, other bones, skin and brain. Shprintzen-Goldberg syndrome normally occurs in people with no history of the disorder in their family, but it can be inherited.

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