Franceschetti–Klein syndrome

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Franceschetti–Klein syndrome
Synonyms	Treacher Collins syndrome, mandibulofacial dysostosis
Pronounce
Specialty	Medical genetics, Otolaryngology
Symptoms	Craniofacial deformities, hearing loss, cleft palate
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation in TCOF1, POLR1C, or POLR1D
Risks	Family history of the condition
Diagnosis	Clinical examination, genetic testing
Differential diagnosis	Nager syndrome, Miller syndrome
Prevention	N/A
Treatment	Surgical intervention, hearing aids, speech therapy
Medication	N/A
Prognosis	Variable, depending on severity
Frequency	1 in 50,000 live births
Deaths	Rarely life-threatening

Micrognathia, a condition often associated with 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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