Cayler cardiofacial syndrome
Cayler Cardiofacial Syndrome Cayler Cardiofacial Syndrome, also known as asymmetric crying facies (ACF), is a rare congenital disorder characterized by the underdevelopment of the muscles controlling facial expression, particularly those involved in crying. This condition is often associated with cardiac anomalies and other systemic abnormalities.
Presentation[edit | edit source]
Individuals with Cayler Cardiofacial Syndrome typically present with an asymmetric facial appearance, especially noticeable when crying or smiling. The condition is due to hypoplasia or absence of the depressor anguli oris muscle on one side of the face. This results in a unilateral drooping of the mouth.
Facial Features[edit | edit source]
- Asymmetric crying facies - Unilateral drooping of the mouth - Possible ear anomalies
Cardiac Anomalies[edit | edit source]
Cayler Cardiofacial Syndrome is often associated with congenital heart defects. Common cardiac anomalies include: - Ventricular septal defect (VSD) - Atrial septal defect (ASD) - Tetralogy of Fallot
Etiology[edit | edit source]
The exact cause of Cayler Cardiofacial Syndrome is not well understood, but it is believed to be related to developmental anomalies during embryogenesis. It may occur as part of a broader genetic syndrome, such as 22q11.2 deletion syndrome.
Diagnosis[edit | edit source]
Diagnosis of Cayler Cardiofacial Syndrome is primarily clinical, based on the characteristic facial asymmetry. However, further investigations are often warranted to identify associated cardiac and systemic anomalies. These may include: - Echocardiogram - Genetic testing - MRI or CT scan of the head and neck
Management[edit | edit source]
Management of Cayler Cardiofacial Syndrome involves addressing the specific symptoms and associated anomalies. This may include: - Surgical correction of cardiac defects - Physical therapy for facial muscle strengthening - Regular monitoring and supportive care
Prognosis[edit | edit source]
The prognosis for individuals with Cayler Cardiofacial Syndrome varies depending on the severity of associated cardiac and systemic anomalies. With appropriate management, many individuals can lead normal lives.
See Also[edit | edit source]
External Links[edit | edit source]
- Genetic and Rare Diseases Information Center
NIH genetic and rare disease info[edit source]
Cayler cardiofacial syndrome is a rare disease.
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