Mandibulofacial dysostosis

This code represents Mandibulofacial dysostosis, also known as Treacher Collins syndrome, a rare genetic disorder characterized by distinctive craniofacial malformations. These typically include downward-sloping eyes, underdeveloped cheekbones (malar hypoplasia), a small jaw (micrognathia), and often ear abnormalities. The condition can lead to breathing, feeding, and hearing difficulties.

Use this code for patients diagnosed with Treacher Collins syndrome based on clinical presentation and/or genetic testing. Documentation should clearly describe the characteristic craniofacial anomalies consistent with this diagnosis. This code is appropriate for initial diagnosis and ongoing management of the condition.

• Ensure documentation specifies "Mandibulofacial dysostosis" or "Treacher Collins syndrome" to support this specific code.
• Do not confuse with other craniofacial anomalies unless they are explicitly part of the Treacher Collins spectrum.
• Code any associated congenital anomalies (e.g., hearing loss, cleft palate) separately as secondary diagnoses.