Treacher-collins syndrome

 
 
 

    Treacher-Collins syndrome is a a rare genetic disorder characterized by craniofacial deformities and is found in 1 in 10,000 births. The typical physical characteristics that are caused by this condition may include downward slanting eyes, a small lower jaw, conductive hearing loss, underdeveloped zygoma, drooping part of the lateral lower eyelids, and malformed or absent ears.


    One known cause of this syndrome is a mutation in the TCOF1 gene. The protein coded by this gene is called Treacle and has been hypothesized to assist in protein sorting during particular stages in embryotic development, particularly that of the structures of the head and face. The disorder is inherited in an autosomal-dominant pattern.


    The symptoms of this disorder vary greatly, ranging for nearly unnoticeable to severe. Most affected patients have underdeveloped facial bones, which result in a sunken appearance in the middle of the face, a prominent nose, and a very small nose and chin. some people with this condition are also born with a cleft palate. Malocclusion of the teeth is also present. In severe cases, micrognathia, which is the name for the condition where the lower jaw and chin are abnormally small, may displace the tongue of the affected new-born enough to cause an obstruction of the oropharynx and can lead to potentially life-threatening  respiratory problems, but it has been known that the epiglottis can be surgically removed to help with airway obstruction. The new-born will asphyxiate, or pass out, unless a proper airway is established. The condition is bilateral, which means both sides of the face, and the involvement is symmetrical. Congenital heart disease is a rare occurrence that may also develop.


    People with Treacher-Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called a coloboma. Patients with Treacher-Collins syndrome may also need a feeding tube because some cases are so severe that they cannot swallow. Treacher-Collins syndrome is also characterized by absent, small or unusually shaped ears, called microtia. Defects in the middle ear, where the three small bones that transmit sound are located, will cause deafness in about half the cases, however, patients with Treacher-Collins syndrome have normal intelligence. 

About Treacher-Collins Syndrome


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