Macrostomia

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Macrostomia[edit | edit source]

Illustration of macrostomia

Macrostomia is a rare congenital deformity characterized by an abnormally large mouth. It is a type of facial cleft that results from the incomplete fusion of the maxillary and mandibular processes during embryonic development. This condition can affect both the aesthetic appearance and functional aspects of the mouth, including speech and feeding.

Etiology[edit | edit source]

Macrostomia occurs due to disruptions in the normal development of the embryo, specifically during the formation of the face. The condition is often associated with other craniofacial anomalies and can be part of a syndrome, such as Goldenhar syndrome or Treacher Collins syndrome. Genetic and environmental factors may contribute to the occurrence of macrostomia.

Clinical Presentation[edit | edit source]

Patients with macrostomia present with an unusually wide mouth. The extent of the cleft can vary, ranging from a slight widening of the mouth to a complete cleft extending towards the ear. In some cases, macrostomia may be unilateral or bilateral. The condition can lead to difficulties with feeding, speech, and oral hygiene.

Diagnosis[edit | edit source]

Diagnosis of macrostomia is primarily clinical, based on the physical examination of the patient. Imaging studies, such as X-ray or MRI, may be used to assess the extent of the cleft and to identify any associated anomalies. Genetic testing may be considered if a syndromic association is suspected.

Treatment[edit | edit source]

The primary treatment for macrostomia is surgical correction. The goal of surgery is to restore normal function and appearance of the mouth. Surgical techniques may involve the reconstruction of the orbicularis oris muscle and the realignment of the skin and mucosa. Postoperative care is essential to ensure proper healing and to minimize scarring.

Prognosis[edit | edit source]

With appropriate surgical intervention, the prognosis for individuals with macrostomia is generally good. Early treatment can help prevent complications related to feeding and speech development. Long-term follow-up may be necessary to address any functional or aesthetic concerns.

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Contributors: Prab R. Tumpati, MD