Treacher Collins syndrome

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Treacher Collins syndrome
Synonyms	Mandibulofacial dysostosis, Treacher Collins–Franceschetti syndrome
Pronounce
Specialty	N/A
Symptoms	Underdeveloped facial bones, cleft palate, hearing loss
Complications	Breathing problems, feeding difficulties
Onset	Congenital
Duration	Lifelong
Types
Causes	Genetic mutation in TCOF1, POLR1C, or POLR1D
Risks
Diagnosis	Physical examination, genetic testing
Differential diagnosis	Nager syndrome, Miller syndrome
Prevention
Treatment	Surgery, hearing aids, speech therapy
Medication
Prognosis	Variable
Frequency	1 in 50,000
Deaths

Facial features of an individual with Treacher Collins syndrome

Side view showing facial asymmetry

Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. The degree to which a person is affected can vary from mild to severe. Complications may include breathing problems, problems seeing, cleft palate, and hearing loss.

Signs and Symptoms

Individuals with Treacher Collins syndrome often have underdeveloped facial bones, particularly the cheekbones, and a very small jaw and chin (micrognathia). Some people with this condition are also born with a cleft palate. The eyes may be slanted downward, and there may be a notch in the lower eyelids called a coloboma. Additionally, individuals may have absent, small, or unusually formed ears, which can lead to hearing loss.

Genetics

Treacher Collins syndrome is inherited in an autosomal dominant pattern.

Treacher Collins syndrome is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about 60% of cases, the condition results from new mutations in the gene and occurs in people with no history of the disorder in their family. The remaining cases are inherited from an affected parent. The condition is associated with mutations in the TCOF1, POLR1C, or POLR1D genes.

Diagnosis

Diagnosis of Treacher Collins syndrome is based on clinical evaluation, characteristic physical findings, and genetic testing. Prenatal diagnosis is possible through ultrasound and genetic testing if there is a known family history of the disorder.

Management

Management of Treacher Collins syndrome often requires a multidisciplinary approach. Treatment may include surgery to correct facial deformities, hearing aids to address hearing loss, and speech therapy. Early intervention is important to address developmental delays and improve quality of life.

Epidemiology

Treacher Collins syndrome affects approximately 1 in 50,000 people. It occurs in all populations and affects males and females equally.

History

The condition is named after Edward Treacher Collins, a British surgeon and ophthalmologist who described the essential features of the syndrome in 1900. However, earlier descriptions of the condition were made by other physicians.

See also

• Craniofacial abnormalities
• Genetic disorders
• Hearing loss

NIH genetic and rare disease info

• NIH info on Treacher Collins syndrome

Treacher Collins syndrome is a rare disease.

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