Esophageal atresia coloboma talipes

Esophageal Atresia, Coloboma, and Talipes (EACT) is a rare congenital condition characterized by a combination of anomalies including esophageal atresia, coloboma, and talipes equinovarus (clubfoot). This condition represents a spectrum of physical malformations that can vary significantly in severity and combination among affected individuals.

Overview

Esophageal atresia is a birth defect in which part of a baby's esophagus (the tube that connects the mouth to the stomach) does not develop properly. Coloboma refers to a defect in the eye, where normal tissue in or around the eye is missing from birth. Talipes equinovarus, commonly known as clubfoot, is a condition where a newborn's foot or feet appear to be rotated internally at the ankle.

Etiology

The exact cause of EACT is currently unknown. It is believed to involve a combination of genetic and environmental factors. However, the rarity of the condition has made it difficult to identify specific genetic mutations or environmental exposures that might lead to the development of EACT.

Diagnosis

Diagnosis of EACT typically occurs shortly after birth, based on the physical presence of the condition's characteristic malformations. Prenatal imaging techniques, such as ultrasound, may also detect signs of EACT before birth, allowing for early diagnosis and planning for immediate care after birth.

Treatment

Treatment for EACT is multidisciplinary and depends on the severity and combination of the individual's specific malformations. Surgical intervention is often required to correct esophageal atresia shortly after birth. Treatment for coloboma may involve measures to protect the eye and improve vision, while talipes equinovarus is usually treated with a combination of casting, bracing, and possibly surgery to correct the foot position.

Prognosis

The prognosis for individuals with EACT varies depending on the severity of the malformations and the success of treatments. With early and appropriate treatment, many individuals with EACT can lead healthy, active lives.

See Also

• Congenital disorder
• Birth defect
• Pediatric surgery