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VACTERL association X-linked with or without hydrocephalus (VACTERLX)
Genetics:
- associated with defects in ZIC3 are a cause of VACTERL association X-linked with or without hydrocephalus (VACTERLX, VACTERL-H)
- some cases of VACTERL-H are associated with increased chromosome breakage & rearrangement
Clinical manifestations:
- vertebral anomalies
- anal atresia
- cardiac malformations
- tracheoesophageal fistula
- renal anomalies
- urethral atresia with hydronephrosis
- limb anomalies
- hexadactyly
- humeral hypoplasia
- radial aplasia
- proximally placed thumb
- some patients may have hydrocephalus
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 314390
References
OMIM :accession 314390