Guérin–Stern syndrome

Guérin–Stern syndrome is a rare genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis), leading to an abnormal shape of the head and face. This condition is part of a group of disorders known as craniosynostosis syndromes. Guérin–Stern syndrome specifically involves the fusion of the coronal suture, the growth line that goes over the head from ear to ear, which affects the shape of the head and face. The syndrome was first described by Guérin and Stern, who identified its unique clinical and genetic features.

Symptoms and Signs

The primary symptom of Guérin–Stern syndrome is the premature fusion of the coronal suture, leading to a characteristic appearance. This may include a short and wide head, a high forehead, and possibly a flat occiput (the back part of the head). Other facial features can include a flat midface and protruding eyes due to shallow eye sockets. In some cases, individuals may have additional abnormalities, including hearing loss, intellectual disability, and vision problems.

Causes

Guérin–Stern syndrome is caused by genetic mutations. The exact genes involved may vary among individuals, and in many cases, the genetic cause remains unidentified. It is believed to follow an autosomal dominant pattern of inheritance, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. However, there are instances where the syndrome occurs as a result of a new mutation and is not inherited from either parent.

Diagnosis

Diagnosis of Guérin–Stern syndrome is primarily based on physical examination and the characteristic appearance of the head and face. Imaging studies, such as X-rays or CT scans, can confirm the premature fusion of the coronal sutures. Genetic testing may be helpful in identifying the specific mutation, although it is not always conclusive.

Treatment

Treatment for Guérin–Stern syndrome typically involves surgery to correct the shape of the head and relieve any pressure on the brain. This may include cranial vault remodeling or other surgical techniques designed to allow the brain adequate space to grow. Additional treatments may be necessary to address other symptoms or complications, such as hearing aids for hearing loss or glasses for vision problems. Early intervention and a multidisciplinary approach are crucial for managing the condition and improving the quality of life for affected individuals.

Prognosis

The prognosis for individuals with Guérin–Stern syndrome varies depending on the severity of the symptoms and the presence of other complications. With appropriate treatment, many individuals can lead healthy, productive lives. However, ongoing monitoring and care are often necessary to address any developmental, hearing, or vision issues.

Guérin–Stern syndrome Resources
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