Franceschetti–Klein syndrome

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(Redirected from Mandibulofacial dysostosis)

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Franceschetti–Klein syndrome
Autosomal dominant - en.svg
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:

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

References

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Contributors: Prab R. Tumpati, MD