Shprintzen-Goldberg Syndrome is a connective tissue disorder that can affect many parts of the body. A person with the disorder may have a combination of unique facial features and skeletal and neurological abnormalities.
Shprintzen-Goldberg Syndrome is often caused by defects (mutations) in the SKI gene. This particular 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 (mobility)
– 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, bones, skin, and brain. The SKI mutation prevents the TGF-β signaling pathway from carrying out its many functions in these areas, and as a result these signs and symptoms are seen in those people with Shprintzen-Goldberg Syndrome.
Other symptoms that Shprintzen-Goldberg Syndrome shares with Marfan Syndrome may include:
– long arms, legs, and fingers
– curved spine
– the skull bones fuse or join together to early (craniosyntososis), preventing the skull from growing normally.
Facial features that may result in those with Shprintzen-Goldberg Syndrome 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 roared backward
– abnormal head shape
Still other features may 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
Additionally, a person with Shprintzen-Goldberg Syndrome often times can have delayed development and mild to moderate intellectual disability.