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VACTERL association, X-linked, with or without hydrocephalus

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Uniprot Description A syndrome characterized by a non-random association of congenital defects. Affected individuals manifest vertebral anomalies (V), anal atresia (A), cardiac malformations (C), tracheoesophageal fistula (TE), renal anomalies (R) such as urethral atresia with hydronephrosis, and limb anomalies (L) such as hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb. Some patients may have hydrocephalus. Some cases of VACTERL-H are associated with increased chromosome breakage and rearrangement.
Mondo Term and Equivalent IDs
MONDO:0010752:  VACTERL association, X-linked, with or without hydrocephalus
DOID:0111766: 
GARD:0008498: 
UMLS:C2931228: