VATER association with macrocephaly and ventriculomegaly, 276950, autosomal recessive (VACTERL with hydrocephalus) - VACTERL-H syndrome (PTEN gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Imported from OMIM

VACTERL describes a constellation of congenital anomalies, including vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects; see 192350. Cases of familial VACTERL with hydrocephalus (H) have been reported with suggestion of autosomal recessive or X-linked inheritance (see 314390). Other patients thought to have VACTERL-H, including 2 unrelated infants reported by Porteous et al. (1992), had been found to have Fanconi anemia (see 227650). Porteous et al. (1992) suggested that chromosomal breakage studies should be performed in all cases of VACTERL/VACTERL-H to rule out Fanconi anemia. Alter et al. (2007) noted that a VATER phenotype had been reported in Fanconi anemia of complementation groups A (227650), C (227645), D1 (605724), E (600901), F (603467), and G (614082). X-linked VACTERL-H is also associated with mutations in the FANCB gene (300515).

Imported from Human Phenotype Ontology (HPO)

• Imperforate anus
• Abnormal heart morphology
• Hydrocephalus
• Respiratory insufficiency
• Renal hypoplasia
• Aqueductal stenosis
• Respiratory failure
• Abnormal vertebral morphology
• Absent thumb
• Abnormality of the vertebral column
• Radial club hand
• Abnormal cardiovascular system morphology