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What is Collins Syndrome?

Published in Genetic Disorders 2 mins read

Collins syndrome, more accurately known as Treacher Collins syndrome, is a genetic disorder that primarily affects the development of the head and face. This condition is characterized by several specific facial and cranial features.

Key Characteristics of Treacher Collins Syndrome

  • Genetic Disorder: Treacher Collins syndrome stems from genetic mutations.
  • Craniofacial Development: It impacts how the bones of the skull, cheeks, and jaw develop.
  • Facial Anomalies: Individuals with this syndrome often have distinctive facial features.
  • Hearing Loss: Hearing problems are a common symptom.

How Treacher Collins Syndrome Affects Individuals:

Here's a breakdown of the effects:

Affected Area Description
Skull May not develop properly, leading to specific head shapes
Cheekbones Can be underdeveloped, causing a flattened cheek appearance
Jawbones Often small and underdeveloped, possibly impacting the ability to chew
Facial Features Can vary significantly in severity, from mild to severe
Hearing Commonly affected, potentially leading to varying degrees of hearing loss

Prevalence

  • Rare Condition: Treacher Collins syndrome affects approximately 1 in 50,000 births.

Severity

  • Variable Symptoms: The severity of symptoms ranges from mild to very severe.

What To Expect

The specifics of Treacher Collins syndrome can vary greatly from person to person, and it’s essential for those with the syndrome to receive proper medical evaluation and care tailored to their unique situation.

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