Hemifacial hyperplasia

Hemifacial hyperplasia, also known as facial hemihypertrophy or hemifacial hypertrophy, is a rare congenital condition characterized by asymmetric overgrowth of one side of the face. The condition involves enlargement of both soft tissues and bony structures on the affected side, leading to noticeable facial asymmetry. Structures that may be affected include the maxilla, mandible, teeth, tongue (hemimacroglossia), lips, cheeks, ears, and overlying skin and subcutaneous tissues. The degree of asymmetry can range from mild, barely perceptible differences to significant disfigurement that impacts function and appearance. Hemifacial hyperplasia may occur as an isolated finding or as part of broader overgrowth syndromes such as Beckwith-Wiedemann syndrome, Proteus syndrome, or other segmental overgrowth conditions. When isolated, the cause is often unknown, though somatic mosaicism for growth-promoting genetic mutations has been implicated in some cases. Dental abnormalities are common and may include premature eruption, enlarged teeth (macrodontia), and malocclusion on the affected side. In some cases, there may be associated functional issues including difficulties with chewing, speech, and dental alignment. Treatment is primarily supportive and symptomatic, tailored to the severity of the asymmetry and functional impairment. Orthodontic management is frequently required to address dental and occlusal abnormalities. Surgical interventions, including orthognathic surgery, soft tissue reduction, and reconstructive procedures, may be considered to improve facial symmetry and function, typically after skeletal growth is complete. A multidisciplinary approach involving craniofacial surgeons, orthodontists, dentists, and other specialists is recommended for optimal management. Regular monitoring during childhood is important to track the progression of asymmetry during growth periods.

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