Cleft lower lip cleft lateral canthi chorioretinal

Cleft Lower Lip, Cleft Lateral Canthi, and Chorioretinal Abnormalities is a rare congenital condition characterized by a combination of facial and ocular anomalies. This condition involves a cleft (split) in the lower lip, clefts in the lateral canthi (the outer corners of the eyes), and chorioretinal abnormalities, which affect the choroid and retina of the eye. The exact cause of this syndrome is not well understood, but it is believed to involve genetic factors.

Symptoms and Characteristics

The primary features of this condition include:

• Cleft Lower Lip: A physical split or opening in the skin of the lower lip, which can vary in severity.
• Cleft Lateral Canthi: This refers to splits or clefts in the outer corners of the eyes, which can affect the shape and function of the eye.
• Chorioretinal Abnormalities: These are defects in the choroid and retina, the parts of the eye responsible for blood supply and visual processing, respectively. These abnormalities can lead to visual impairment.

Other possible associated features may include:

• Dental anomalies
• Ear abnormalities
• Skeletal defects

Diagnosis

Diagnosis of this condition is primarily based on the physical examination of the characteristic features. Imaging studies, such as MRI or CT scans, may be used to assess the extent of the anomalies. Ophthalmologic examination is crucial for identifying chorioretinal abnormalities.

Treatment

Treatment for this condition is multidisciplinary and may involve:

• Surgical Correction: Surgery may be required to repair the cleft lip and any significant clefts in the lateral canthi. These surgeries are typically performed by a team of specialists in plastic surgery and oculoplastic surgery.
• Ophthalmologic Care: Regular eye examinations and treatments are necessary to manage chorioretinal abnormalities and prevent vision loss.
• Dental Care: Orthodontic treatment may be needed to address dental anomalies.

Prognosis

The prognosis for individuals with this condition varies depending on the severity of the anomalies and the effectiveness of the treatment. Early intervention and ongoing care can significantly improve outcomes, especially in terms of facial appearance and vision.

Epidemiology

The prevalence of this condition is extremely rare, with only a few cases reported in the medical literature. It affects males and females equally.