FACES syndrome

From WikiMD's Wellness Encyclopedia

FACES syndrome (also known as FACES association) is a rare congenital disorder characterized by a combination of craniofacial, cardiac, and other systemic anomalies. The acronym FACES stands for "Facial features, Anorectal malformations, Cardiac defects, Eye abnormalities, and Skeletal anomalies."

Clinical Features[edit | edit source]

Individuals with FACES syndrome may present with a variety of clinical features, which can include:

Diagnosis[edit | edit source]

The diagnosis of FACES syndrome is primarily clinical, based on the presence of the characteristic features. Genetic testing and imaging studies such as echocardiography and MRI may be used to identify specific anomalies and confirm the diagnosis.

Management[edit | edit source]

Management of FACES syndrome is multidisciplinary, involving various specialists such as pediatricians, cardiologists, ophthalmologists, and orthopedic surgeons. Treatment is tailored to the individual patient's needs and may include surgical correction of malformations, medical management of cardiac defects, and supportive therapies for developmental delays.

Prognosis[edit | edit source]

The prognosis for individuals with FACES syndrome varies depending on the severity of the anomalies and the presence of associated complications. Early diagnosis and comprehensive management can improve outcomes and quality of life.

Related Pages[edit | edit source]




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Contributors: Prab R. Tumpati, MD