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Shprintzen-Goldberg Syndrome

Shprintzen-Goldberg syndrome is a connective tissue disorder that affects many parts of the body. People who have this syndrome have a combination of unique facial features and skeletal and neurological abnormalities.

What causes Shprintzen-Goldberg syndrome?

Shprintzen-Goldberg syndrome is often caused by defects (mutations) in the SKI gene. This gene provides instructions for making a protein that controls the transforming growth factor beta (TGF-β) signaling pathway. The TGF-β signaling pathway regulates many processes, including:

  • Cell growth and division (proliferation)
  • The process by which cells mature to carry out special functions (differentiation)
  • Cell movement (motility)
  • The self-destruction of cells (apoptosis)

The SKI protein is found in many cell types throughout the body and appears to play a role in the development of many tissues, including the skull, other bones, skin, and brain. In Shprintzen-Goldberg syndrome, the SKI gene mutation prevents the TGF-β signaling pathway from carrying out its many functions in these areas.

What are the key features of Shprintzen-Goldberg syndrome?

Shprintzen-Goldberg syndrome shares many features with Marfan syndrome including:

  • Long arms, legs, and fingers
  • Curved spine

In Shprintzen-Goldberg syndrome, the skull bones fuse or join together too early (craniosyntostosis), preventing the skull from growing normally. Facial features that result may include:

  • A long, narrow head
  • Widely spaced eyes
  • Wandering eye
  • Outside corners of the eyes that point downward
  • High, narrow roof of the mouth
  • Underdeveloped jaw bones
  • Small lower jaw
  • Low-set ears that are rotated backward
  • Abnormal head shape

Other features of Shprintzen-Goldberg syndrome include:

  • One or more fingers that are permanently bent
  • Unusually large range of joint movement (joint hypermobility)
  • Heart or brain abnormalities
  • Weak muscle tone in infancy

In addition, people with Shprintzen-Goldberg syndrome often have delayed development and mild to moderate intellectual disability.

To learn more about Shprintzen-Goldberg syndrome and its diagnosis and treatment, download:

Shprintzen-Goldberg syndrome