Achelia
Acheilia is a rare medical condition characterized by the absence of lips, either the upper lip, lower lip, or both. This condition can occur as a standalone anomaly or as part of a syndrome, such as Orofacial-digital syndrome or Van der Woude syndrome.
Etiology[edit | edit source]
The exact cause of Acheilia is not well understood. It is believed to be a result of genetic mutations or environmental factors that affect the development of the facial structures during embryogenesis. Some studies suggest a link with mutations in the IRF6 gene, which is known to play a crucial role in craniofacial development.
Clinical Features[edit | edit source]
Patients with Acheilia present with a complete or partial absence of the lips. This can affect their ability to close their mouth, speak, eat, and express emotions. In some cases, other facial anomalies such as cleft palate or cleft lip may also be present.
Diagnosis[edit | edit source]
Diagnosis of Acheilia is primarily based on physical examination. Imaging studies such as Computed Tomography (CT) scan or Magnetic Resonance Imaging (MRI) may be used to assess the extent of the condition and identify any associated anomalies. Genetic testing may also be performed to identify any underlying genetic mutations.
Treatment[edit | edit source]
The treatment of Acheilia is primarily surgical and aims to reconstruct the lips to improve function and appearance. This is usually performed by a team of specialists including a plastic surgeon, oral and maxillofacial surgeon, and speech-language pathologist.
Prognosis[edit | edit source]
The prognosis for individuals with Acheilia largely depends on the severity of the condition and the presence of associated anomalies. With appropriate treatment, most individuals can lead a normal life. However, they may require ongoing support and therapy to manage any speech or feeding difficulties.
See Also[edit | edit source]
References[edit | edit source]
NIH genetic and rare disease info[edit source]
Achelia is a rare disease.
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Contributors: Prab R. Tumpati, MD
