Hypoglossia

Hypoglossia is a rare congenital condition characterized by an underdeveloped or absent tongue. It is often associated with other craniofacial abnormalities, such as micrognathia (small jaw), cleft palate, and limb abnormalities.

Etiology

The exact cause of hypoglossia is unknown, but it is thought to be due to a disruption in the development of the first and second branchial arches during embryogenesis. Some cases have been associated with genetic syndromes, such as Pierre Robin sequence and Hanhart syndrome.

Clinical Presentation

Patients with hypoglossia often present with difficulties in speech, swallowing, and breathing. The severity of these symptoms depends on the extent of the tongue underdevelopment. In severe cases, the condition can lead to malnutrition and failure to thrive.

Diagnosis

Diagnosis of hypoglossia is usually made at birth based on the physical examination. Imaging studies, such as ultrasound or magnetic resonance imaging (MRI), may be used to assess the extent of the condition and to identify any associated abnormalities.

Treatment

Treatment of hypoglossia is primarily surgical and aims to improve function and appearance. This may involve tongue reconstruction using tissue grafts, or the use of prosthetic devices. Speech and swallowing therapy may also be beneficial.

Prognosis

The prognosis for individuals with hypoglossia depends on the severity of the condition and the presence of associated abnormalities. With appropriate treatment, many individuals can lead normal lives.

See Also

• Congenital anomalies of the mouth
• Pierre Robin sequence
• Hanhart syndrome

Hypoglossia Resources
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