Treacher Collins Syndrome (TCS) is a genetic disorder affecting facial development. It primarily impacts the cheekbones, jaw, ears, and eyelids. Diagnosis is based on clinical evaluation, imaging, and genetic testing to detect mutations in the following genes: TCOF1, POLR1C, or POLR1D genes (all of which are protein encoding genes). TCS is estimated to occur in about 1 in 50,000 live births and does not typically affect intellectual development or life expectancy.
Causes:
TCS is most commonly caused by mutations in the TCOF1 gene, leading to disrupted development of facial bones and tissues. It follows an autosomal dominant inheritance pattern in most cases, though de novo mutations are common (a mutation that appears for the first time in an individual, meaning it was not inherited from either parent).
Symptoms: (severity of symptoms vary widely)
Underdeveloped facial bones: Particularly affecting the cheekbones and lower jaw (mandibular hypoplasia)
Cleft palate: Present in some cases
Eyelid coloboma: Notches in the lower eyelids
Malformed ears: Which may lead to conductive hearing loss
Normal intelligence: Cognitive development is typically unaffected
Treatment Options: depending on severity
Craniofacial surgery: To address facial asymmetry and jaw issues.
Hearing aids: To manage hearing impairments.
Speech therapy: To support speech development in cases with cleft palate or hearing loss.
Orthodontics and dental care: For oral health and alignment issues.
With early interventions, individuals with TCS can lead fulfilling lives with minimal functional limitations. From undergoing multiple surgeries to address craniofacial abnormalities to managing hearing loss and speech delays, the journey requires resilience and access to a team of specialists. However, people with Treacher Collins syndrome typically have a normal lifespan if they get the treatment they need as children. With advances in surgical techniques, hearing aids, and therapeutic interventions, as well as growing societal awareness and inclusivity, those with TCS are increasingly able to thrive and reach their full potential.
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