Treacher Collins Syndrome

Treacher Collins Syndrome (TCS) is a genetic condition affecting bones and tissues of the face. It belongs to a group of disorders known as mandibulofacial dysostoses.

TCS affected child

TCS may be passed down through families, though most cases result from genetic mutation. People living with TCS have a 50% chance of passing it along to their offspring.

Causes

Treacher Collins Syndrome is caused by mutations (changes) to TCOF1 on Chromosome 5, which produces a protein essential for how bones and other tissues develop during gestation. Mutations have also been identified in POLR1C and POLR1D genes which pass down mutations to offspring via autosomal dominant inheritance.

Abnormalities in newborn babies' ears, eyelids, cheekbones and jawbones can have serious cosmetic ramifications on how their face appears. Other features may include downward slanting opening between upper and lower eyelids (palpebral fissures) as well as anomalies involving external and middle ear structures leading to hearing loss. Furthermore, breathing problems may result from their airway becoming narrow and may necessitate lifelong use of tracheostomies for some affected individuals.

Treacher Collins syndrome is thought to be caused by both genetic factors and environmental influences, with people who suffer from the disorder typically being mentally normal without learning or developmental problems. Children living with Treacher Collins Syndrome require various surgeries in order to repair the deformities in their faces; such operations include bone grafting for correcting jaw and cheekbone deformities; facial soft tissue augmentation with fat or tissues; reconstructing ears and orthognathic surgery which reduces skull size while improving dental occlusion as well as facial proportions.

Symptoms

Treacher Collins syndrome is characterized by underdeveloped facial bones, particularly in the cheekbones and jaw (micrognathia). Affected people generally have small lower jaw and chin with cleft palate; this opening in the roof of their mouth (cleft palate) may restrict airway, leading to breathing issues or sleep apnea in children; eyes often bow forward with upper eyelid covering part of lower eyelash area (palpebral fissure); occasionally outer/middle ears fail to form normally (anomalies of canal/ossicles), leading to deformed ears unable to transmit sound properly;

Healthcare providers usually diagnose Treacher Collins syndrome at birth by examining its facial features, taking x-rays or taking other images of the skull and face for diagnosis purposes, or performing computerized tomography scans to obtain detailed images of bones, structures and tissues surrounding them.

Treacher Collins syndrome is passed along in an autosomal dominant fashion, meaning only one copy of a gene must contain mutations for someone to show symptoms of Treacher Collins syndrome. Affected individuals have a 50% chance of passing their mutation on to each child; when both parents carry mutations, there is an additional 25% risk that their offspring could inherit Treacher Collins syndrome.

Diagnosis

Treacher Collins Syndrome is usually identified shortly after birth; however, sometimes additional tests such as X-rays and CT scans may be necessary to confirm its severity. Furthermore, molecular testing can be performed to identify mutations in TCOF1 and POLR1D genes in families where Treacher Collins Syndrome has been passed from one parent to the child.

Children diagnosed with Treacher Collins Syndrome typically exhibit distinctive facial features, including underdeveloped zygomatic, cheek, and jaw bones (hypoplasia), small ears that lack internal structures (microtia), which often lead to severe conductive hearing loss, as well as having a cleft palate and lower eyelid notch called "coloboma." They may also experience breathing issues due to narrow airways as well as underdeveloped or misaligning teeth - though intelligence typically remains normal and there have been reports of learning and developmental delays among these children.

Children born with Treacher Collins Syndrome typically require extensive medical attention in their first few years of life, including surgery to alleviate some symptoms and assist with breathing, eating or sleeping. Technology such as bone-anchored hearing aids / Baha and jaw expansion surgeries now enable many Treacher Collins children to lead active lives despite symptoms as severe as Treacher Collins syndrome; its prognosis depends on severity; however even severe cases can often be managed successfully through multidisciplinary craniofacial management teams.

Treatment

Treacher Collins Syndrome and related conditions such as Nager and Miller syndromes are genetic conditions. Children can inherit their mutation from either of their parents, or it could occur during fetal development itself.

Cause: Chromosome 5. During fetal development, genes pass instructions for building certain parts of the body from parent to child through DNA instructions. Most DNA is the same across people; however, variations or mutations contribute to creating unique physical features in each person - mutations on Chromosome 5 can alter facial features development.

Treacher Collins syndrome can be passed from parent to offspring with a 50% chance. Furthermore, this genetic mutation could also exist among unaffected siblings of those affected.

Doctors can detect Treacher Collins syndrome at birth by conducting a physical examination and an imaging procedure such as computerized tomography scan (CT scan). CT scans allow doctors to obtain detailed images of bones, muscles, and fat throughout the body.

Hearing loss is a common condition among those with this condition, so doctors typically perform special exams to evaluate your child's middle ear bone structures that transmit sound. If they show any sign of hearing loss, treatment with an otolaryngologist should begin immediately.