Zygoauromandibular dysplasia, also known as Treacher Collins syndrome (TCS), is a rare condition that affects the development of tissues and bone in the face. It is an autosomal dominant congenital disorder characterized by craniofacial deformities, typically involving the ears, eyes, cheekbones, and jawbone.
TCS is caused by a genetic mutation, it’s estimated that Treacher Collins syndrome affects one in 50,000 individuals.
The most common symptom of Treacher Collins syndrome is underdevelopment of the lower jaw and underdevelopment of the zygomatic bone.
When the condition is suspected from physical appearance, related testing often includes X-rays, CT scans, and MRIs to determine the extent of the irregular development.
There is currently no cure for TCS. Treatment is tailored to the specific needs of each child or adult. Ideally, treatment is managed by a multidisciplinary team of craniofacial specialists.