Schinzel Giedion Syndrome synonyms
What other names are the Schinzel Giedion Syndrome known by? Synonyms and other terms with which Schinzel Giedion Syndrome is known.
Schinzel Giedion Syndrome, also known as Schinzel-Giedion midface retraction syndrome, is a rare genetic disorder characterized by a combination of distinct facial features, skeletal abnormalities, and severe neurological impairments. This syndrome was first described by Schinzel and Giedion in 1978 and has since been reported in only a small number of individuals worldwide.
Individuals with Schinzel Giedion Syndrome typically exhibit a distinct facial appearance, including a prominent forehead, widely spaced eyes (hypertelorism), a broad nasal bridge, a short nose with anteverted nostrils, and a small chin. These facial features give affected individuals a characteristic "midface retraction" appearance. Additionally, individuals may have skeletal abnormalities such as short stature, abnormal curvature of the spine (scoliosis), and abnormalities of the fingers and toes.
The most significant aspect of Schinzel Giedion Syndrome is the severe neurological impairment that individuals experience. This can include intellectual disability, developmental delay, and seizures. Many affected individuals also have feeding difficulties, respiratory problems, and may require assistance with mobility.
Due to the rarity of Schinzel Giedion Syndrome, there is limited information available regarding its underlying genetic cause. However, it is believed to be caused by mutations in the SETBP1 gene, which plays a role in regulating gene expression and cell growth. The syndrome is typically sporadic, meaning it occurs randomly and is not inherited from parents.
Management of Schinzel Giedion Syndrome is primarily focused on addressing the individual's specific symptoms and providing supportive care. This may include interventions such as physical therapy, occupational therapy, and speech therapy to help with developmental delays and improve quality of life.
