Syndrome Directory

Treacher Collins Syndrome is an uncommon genetic disorder that causes craniofacial deformity: approximately 1 in 10,000 children are born with the syndrome. The syndrome is so named because of the English ophthalmologist Edward Treacher Collins who identified its principal characteristics around the year 1900. Treacher Collins Syndrome is also known as mandibulofacial dysostosis.

Typical Symptoms Of Treacher Collins Syndrome

• Downward slanting eyes
• A slanting or small lower jaw
• Prominent, malformed or absent ears
• Absent or malformed cheekbones
• Malformed eye sockets
• Notched eyelids

Many of the symptoms of Treacher Collins Syndrome can vary between subtle and extreme. The majority of Treacher Collins sufferers have some form of craniofacial abnormality, which tends to give the face a “sunken” appearance. Children with Treacher Collins Syndrome may also be born with a pronounced nose, small lower jaw and/or cleft palate. They may also suffer partial or full deafness as a result of the malformation of the bones in the ear that help us to hear.

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The Oxford Dictionary defines the word syndrome as “a group of concurrent symptoms of a disease”. This is expanded in the medical field to be a grouping or relationship of a number of medically identifiable characteristics or symptoms that occur together. Oftentimes the detection of one of these symptoms leads to the discovery of others, which can then in turn lead to the diagnosis of a particular syndrome.

A syndrome then is an illness or disorder that has many identifying characteristics or symptoms. Each syndrome (that we know about and have given a name to) has multiple features according to the developmental areas that have been affected by the particular disorder.

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