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X-linked VACTERL-H (XVACTERL-H)

X-linked VACTERL association with hydrocephalus syndrome. VACTERL is an acronym for vertebral anomalies, anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies (urethral atresia with hydronephrosis), and limb anomalies (hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb). Some cases of VACTERL-H are associated with increased chromosome breakage and rearrangement.

OTHER NAME(S): VACTERL-H, X-LINKED

ABREVIATION(S):
VACTERL

TYPE: skeletal abnormalities, chromosomal instability

Related patway(s): Fanconi anemia (FA) pathway

DNAtraffic protein(s) related to disease: FANCB

OMIM: 314390

Last modification date: Aug. 25, 2011