Mandibulofacial dysostosis

Mandibulofacial dysostosis (MFD), also known as Treacher Collins syndrome, is a rare genetic disorder characterized by distinctive abnormalities of the head and face. These abnormalities often include underdeveloped facial bones, particularly the cheekbones, and a very small jaw and chin (micrognathia). Some people with this condition are also born with an opening in the roof of the mouth called a cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant's airway, causing potentially life-threatening respiratory problems.

Causes

Mandibulofacial dysostosis is caused by mutations in the TCOF1, POLR1C, or POLR1D genes. These genes provide instructions for making proteins that are involved in the early development of the face. Mutations in any of these genes disrupt this development, leading to the characteristic features of mandibulofacial dysostosis.

Symptoms

The symptoms of mandibulofacial dysostosis can vary greatly from one person to another. Common symptoms include:

• Underdeveloped facial bones
• Small jaw and chin
• Cleft palate
• Downward-slanting eyes
• Notched lower eyelids
• Ear abnormalities
• Hearing loss

Diagnosis

Mandibulofacial dysostosis is typically diagnosed at birth based on the presence of characteristic physical features. Genetic testing can confirm the diagnosis.

Treatment

Treatment for mandibulofacial dysostosis often involves surgery to correct the facial abnormalities. Other treatments may include speech therapy for those with a cleft palate and hearing aids for those with hearing loss.

See also

• Craniofacial abnormality
• Genetic disorder
• Cleft palate
• Micrognathia

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