Treacher Collins Syndrome

What is Treacher Collins Syndrome? Treacher Collins Syndrome is a hereditary disease which may result in hearing loss and physical defects in the face and head.

A genetic defect in the fifth chromosome is believed to be the cause of Treacher Collins Syndrome. This is the gene affecting facial development.

Treacher Collins Syndrome patients are characterized by abnormal facial features. A great majority of them also suffer from hearing loss because of abnormalities of the outer and middle ear, which conduct sound to the nerve endings.

Symptoms of Treacher Collins Syndrome 

Major symptoms of Treacher Collins Syndrome include:

  • Hearing loss
  • Abnormal to almost completely absent external ears
  • Underdevelopment or absence of cheekbones
  • Small and slanting jaw
  • Large mouth and nose
  • Defect in lower eyelid
  • Scalp hair extending onto cheeks
  • Cleft palate

Treacher Collins is a congenital condition found in one in 10,000. If one of the parents is afflicted with this disease, the probability of their child being born with it is 50 percent. But Treacher Collins Syndrome also occurs in newborns of parents without the disease.

Treatment of Treacher Collins Syndrome

Due to abnormal development of ears, eyes, jaw or other features Syndrome may bring severe complications, affecting speech, hearing, vision and eating.

The condition can be treated to some degree. Plastic surgery may alleviate some of the abnormalities in physical features. Hearing aids may alleviate the hearing impairment.

In certain cases, the diagnosis can be made before birth when ultrasound scanning may show the characteristic curvature of the jaw in victims of Treacher Collins Syndrome. Otherwise the diagnosis is made in a clinical examination.

Sources: Faces - the National Craniofacial Association

www.faces-cranio.org/Disord/Treacher.htm ; Medline Plus

www.nlm.nih.gov/medlineplus/ency/article/001659.htm