(Q75.4) Mandibulofacial dysostosis

Mandibulofacial dysostosis is a genetic disorder that results in malformation of the jaw, face, and ears. it is caused by mutations in the gene that encodes the transcription factor tbx22, leading to abnormal development of the structures of the face and jaw. symptoms include underdeveloped lower jaw, malformed ears, and cleft lip or palate.

Mandibulofacial dysostosis is a genetic disorder caused by a mutation in the gene encoding the transcription factor tbx22. this mutation results in abnormal development of the structures of the face and jaw, including the mandible, maxilla, zygomatic bones, and soft tissues of the face. this leads to a range of facial abnormalities, including broadening of the lower face, malocclusion, and micrognathia, as well as hearing loss and cleft lip and/or palate.

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Main Goal: To reduce the severity of symptoms associated with Mandibulofacial dysostosis

• Regular monitoring of the patient's condition by a qualified medical professional
• Regular review of the patient's medical history
• Regular imaging tests to monitor progression of the disease
• Prescription of relevant medications to manage symptoms
• Use of physical therapies to improve mobility and reduce pain
• Surgery to correct facial deformities
• Use of orthodontic appliances to correct jaw deformities
• Use of speech therapy to improve communication skills
• Psychological counseling to help manage stress and anxiety
• Nutritional counseling to maintain a healthy diet

Mandibulofacial dysostosis is a genetic disorder, so the best way to prevent it is to ensure that both parents are screened for any genetic conditions before attempting to conceive. additionally, pregnant women should receive appropriate prenatal care to ensure that any potential genetic issues are identified and monitored.