Conditions / Syndrome
X-linked VACTERL association
info · Syndrome
A VACTERL association that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26.3 or the FANCB gene on chromosome Xp22.2.
Signs and symptoms
- Anal atresia
- Pulmonary hypoplasia
- Dextrocardia
- Absence of stomach bubble on fetal sonography
- Laryngeal atresia
- Tracheoesophageal fistula
- Polyhydramnios
- Persistent left superior vena cava
- Esophageal atresia
- Sacral dimple
Also known as: VACTERL association, X-linked with or without hydrocephalus; VACTERLX