congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome

Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome, also known as serpentine-like syndrome, is a rare congenital condition that affects the esophagus, diaphragm, stomach, and spine. It is characterized by a severely shortened esophagus accompanied by a midline diaphragmatic hernia that leads to a secondary intrathoracic stomach along with significant vertebral anomalies, particularly rachischisis of the cervical and thoracic spine. The malformations are evident at birth and the condition is mostly fatal in the neonatal or early infantile period. Its prevalence is extremely low, affecting fewer than 1 in a million people.

Infants with this syndrome typically present with severe structural malformations. The hallmark features include a markedly shortened (brachyesophagus) esophagus, a midline diaphragmatic hernia contributing to an intrathoracic displacement of the stomach, and vertebral defects such as cervical or thoracic rachischisis. Additional findings that have been reported include intrauterine growth restriction, a short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip. Not all affected individuals exhibit every feature, and severity varies considerably.

The precise genetic basis of congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome is currently not well understood, and no specific genes have been identified. Without clear evidence of a genetic cause, the inheritance pattern remains unclear, suggesting that the condition may arise from a complex interplay of genetic and environmental factors. Families are encouraged to consider genetic counseling for guidance regarding potential risks and future family planning.

Currently, management of this syndrome focuses on supportive care and symptom management through a multidisciplinary team approach, as there are no treatments specifically linked to this condition. In certain cases, surgical interventions may be considered to address diaphragmatic and esophageal malformations, though the severity of the condition often limits viable treatment options. Patients and families are advised to discuss potential treatment strategies with their healthcare providers and to pursue genetic counseling for further guidance regarding family planning.

The prognosis for congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome is generally poor, with most affected infants not surviving beyond the neonatal or early infantile period. Outcomes vary depending on the severity of the malformations and the availability of specialized supportive care. It is important to recognize that severity and outcomes differ widely between individuals, and as standards of care continue to evolve, future outcomes may change. Families are encouraged to connect with specialists experienced in managing complex congenital anomalies and to seek genetic counseling for additional support.