Saethre–Chotzen syndrome

Pyrgocephalus

Saethre–Chotzen syndrome is a rare congenital disorder characterized by the premature fusion of certain skull bones, which affects the shape of the head and face. This condition is also known as acrocephalosyndactyly type III. It is named after the Norwegian psychiatrist Haakon Saethre and the German neurologist Fritz Chotzen, who first described the syndrome in the early 20th century.

Signs and Symptoms

Individuals with Saethre–Chotzen syndrome typically present with a variety of craniofacial abnormalities, including:

• Craniosynostosis: Premature fusion of the skull bones, leading to an abnormal head shape.
• Facial asymmetry: Uneven appearance of the face.
• Ptosis: Drooping of the upper eyelids.
• Strabismus: Misalignment of the eyes.
• Low-set ears: Ears positioned lower than usual.
• Syndactyly: Fusion of fingers or toes.

Other possible features include a high forehead, a beaked nose, and a small jaw. Intellectual development is usually normal, although some individuals may experience learning difficulties.

Genetics

Saethre–Chotzen syndrome is typically caused by mutations in the TWIST1 gene, which plays a crucial role in the development of bones and other tissues. The condition is inherited in an autosomal dominant pattern, meaning that only one copy of the altered gene is sufficient to cause the disorder. In some cases, the syndrome may result from a new mutation in the gene and occur in individuals with no family history of the condition.

Diagnosis

Diagnosis of Saethre–Chotzen syndrome is based on clinical evaluation, identification of characteristic physical features, and genetic testing to confirm mutations in the TWIST1 gene. Imaging studies such as X-rays, CT scans, and MRIs may be used to assess the extent of craniosynostosis and other skeletal abnormalities.

Treatment

Management of Saethre–Chotzen syndrome typically involves a multidisciplinary approach, including:

• Craniofacial surgery: To correct skull and facial deformities.
• Ophthalmologic care: To address eye-related issues such as ptosis and strabismus.
• Orthopedic surgery: To treat syndactyly and other limb abnormalities.
• Speech therapy and occupational therapy: To support developmental and functional needs.

Regular follow-up with healthcare providers is essential to monitor growth and development and to address any emerging complications.

Prognosis

The prognosis for individuals with Saethre–Chotzen syndrome varies depending on the severity of the condition and the presence of associated complications. With appropriate medical and surgical interventions, many individuals can lead relatively normal lives.

Related Pages

• Craniosynostosis
• TWIST1
• Syndactyly
• Autosomal dominant
• Craniofacial surgery