Franceschetti–Klein syndrome

Franceschetti–Klein syndrome is a rare genetic disorder characterized by craniofacial deformities. It is also known as Treacher Collins syndrome or mandibulofacial dysostosis. The syndrome is named after the Swiss ophthalmologist Adolphe Franceschetti and the German physician Ernst Klein.

Symptoms

The symptoms of Franceschetti–Klein syndrome can vary greatly from person to person. However, common symptoms include:

• Micrognathia (small lower jaw)
• Microtia (small or absent ears)
• Coloboma (notch in the lower eyelids)
• Downslanting palpebral fissures (downward slanting of the outer corners of the eyes)
• Conductive hearing loss

Causes

Franceschetti–Klein syndrome is caused by mutations in the TCOF1, POLR1C, or POLR1D genes. These genes are involved in the development of the bones and tissues of the face. The syndrome is inherited in an autosomal dominant manner, which means that an affected person has a 50% chance of passing the disorder on to their children.

Diagnosis

The diagnosis of Franceschetti–Klein syndrome is usually based on a clinical examination and confirmed by genetic testing. The genetic testing can identify mutations in the TCOF1, POLR1C, or POLR1D genes.

Treatment

There is no cure for Franceschetti–Klein syndrome. Treatment is symptomatic and supportive, and may include surgery to correct the craniofacial abnormalities, hearing aids to manage the conductive hearing loss, and speech therapy to help with speech development.

See also

• Genetic disorder
• Craniofacial surgery
• Genetic testing

References

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