Treacher Collins Syndrome (2024)

FAQs

Treacher Collins Syndrome? ›

Treacher Collins syndrome is a rare, genetic condition affecting the way the face develops — especially the cheekbones, jaws, ears and eyelids. These differences often cause problems with breathing, swallowing, chewing, hearing and speech. How severe the syndrome is varies widely from child to child.

Treacher Collins syndrome (TCS) affects the way the bones of the face develop before a baby is born. This can impact many things, but children with TCS typically have normal intelligence and life expectancy.

Cause of Treacher Collins syndrome

A change in the gene TCOF1 causes up to 93 per cent of cases of Treacher Collins syndrome. This gene, located on chromosome 5, is responsible for facial development. In about half of all cases, TCOF1 spontaneously changes at conception but what triggers the gene change is unknown.

What are the chances of having a child with Treacher Collins syndrome? If one parent has Treacher Collins syndrome, there is a 50 percent chance that the child will be born with the disorder. Unaffected parents who have one child with Treacher Collins syndrome rarely give birth to a second child with the condition.

The syndrome is frequently accompanied by significant hearing loss, early failure to thrive, chronic respiratory insufficiency, and sleep apnea. Intelligence is usually within normal limits although learning disabilities are common in early life.

TCS is a genetic disorder that is characterized by a mandibulofacial dysostosis but is not associated with developmental delay, nor is it associated with a high risk of co-morbid autism, and to our knowledge, there are no previous reports of a co-occurrence of TCS and ASD in the extant literature.

TCS affects males and females in equal numbers. The prevalence is estimated to be between 1 in 10,000-50,000 individuals in the general population. Some mildly affected individuals may go undiagnosed, making it difficult to determine the disorder's true frequency in the general population.

Treacher Collins syndrome (TCS) should be suspected if the triad of micrognathia, glossoptosis, and posterior cleft palate, and deformed external ears are observed during prenatal ultrasonography, excepting Pierre Robin sequence.

Treacher Collins syndrome happens in about 1 in 50,000 newborns worldwide. Children with Treacher Collins syndrome need coordinated care by providers from many areas of healthcare.

Auggie's birth defect, which ranges in severity, is characterized by underdeveloped facial bones that affect his eyes, ears, cheeks, palate and jaw structure. Many patients with craniofacial disorders undergo a series of plastic and reconstructive surgeries every year, starting at a young age.

Why was Auggie's case so unusual? ›

It echoes that of Auggie: Be kind. Treacher Collins syndrome is a rare genetic condition that affects the way a child's face develops, especially the cheekbones, jaws, ears and eyelids.

Goldenhar syndrome (GS) is a relatively common developmental disorder characterized by craniofacial anomalies in association with vertebral, cardiac, renal, and central nervous system defects.

Treacher Collins syndrome (TCS, OMIM 154500), also referred to as Franceschetti syndrome or mandibulofacial dysostosis (MFD1), is a rare developmental disorder.

It has been noted that with Pierre Robin sequence, the mandibular body is small and the ramus is relatively normal, whereas in children with Treacher Collins syndrome, the ramus is short and the mandibular body is relatively normal.

Children with Kabuki syndrome usually have distinctive facial features, mild to moderate mental impairment and growth problems. Kabuki syndrome can also affect many other body systems, including the heart, intestines, kidneys, and skeleton. Kabuki syndrome occurs in about one out of every 32,000 births.

Treacher Collins syndrome (TCS) is a rare group of facial differences that are present at birth. There are currently about 10,000 people in the U.S who were born with TCS. The syndrome affects one in 50,000 births.

This syndrome is a genetic disorder that mainly affects the bones and tissues in a child's face. It is rare, only affecting about one out of every 50,000 children. Treacher Collins syndrome (TCS) does not affect growth or brain development, but it can cause breathing, hearing, and vision problems.