congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome
Findings
No curated finding names congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0034895), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
1 name
Resolves to: congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome
- Also called
- serpentine-like syndrome