Schinzel–Giedion midface retraction syndrome

Schinzel–Giedion Midface Retraction Syndrome (SGMRS) is a rare genetic disorder characterized by severe developmental delay, distinctive facial features, and multiple congenital anomalies. This condition was first described in 1978 by Schinzel and Giedion, who identified its unique clinical presentation. SGMRS is considered extremely rare, with a small number of cases reported worldwide.

Clinical Features

The hallmark of Schinzel–Giedion Midface Retraction Syndrome is a characteristic facial appearance that includes midface retraction, a prominent forehead, and a wide nasal bridge. Other facial features may include deeply set eyes, low-set and malformed ears, and a short, upturned nose. Individuals with SGMRS often present with severe intellectual disability and developmental delay.

In addition to facial dysmorphisms, SGMRS is associated with a wide range of congenital anomalies. These may include heart defects, kidney abnormalities, skeletal anomalies such as rib and vertebral defects, and urogenital malformations. Hearing loss and vision problems are also common among affected individuals.

Genetics

Schinzel–Giedion Midface Retraction Syndrome is caused by mutations in the SETBP1 gene, which is located on chromosome 18q. The condition is inherited in an autosomal dominant manner, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. However, most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

Diagnosis

The diagnosis of SGMRS is primarily based on clinical evaluation and the characteristic features of the syndrome. Genetic testing can confirm a diagnosis by identifying a mutation in the SETBP1 gene. Prenatal diagnosis may be possible for families with a known mutation.

Management

Management of Schinzel–Giedion Midface Retraction Syndrome is symptomatic and supportive. This may include surgical interventions for congenital anomalies, therapies to support developmental skills, and measures to manage seizures, which are common in affected individuals. A multidisciplinary team approach is essential for addressing the complex needs of individuals with SGMRS.

Prognosis

The prognosis for individuals with Schinzel–Giedion Midface Retraction Syndrome is generally poor, with many affected children not surviving beyond early childhood. The severity of congenital anomalies and the risk of serious complications, such as seizures and infections, contribute to the reduced life expectancy.

See Also

• Genetic disorder
• Intellectual disability
• Congenital anomaly

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