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: