Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome

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Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome

Synonyms: Serpentine-like syndrome

A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction short neck intestinal malrotation herniation of other abdominal organs and cleft lip among others. The condition is mostly fatal in the neonatal or early infantile period.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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