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Wolf-Hirschhorn syndrome

Pathology: - malformation syndrome associated with a hemizygous chromosome 4p16.3 deletion Genetics: 1) chromsome 4p16.3 deletion 2) sub-telomeric deletions in the short arm of chromosome 4 involving WHSC1 at chromosome 4p16.3 3) WHSC1 is deleted in every case 4) deletion of linked genes contributes to both the severity disease & the presence of the additional syndromic features 5) linked genes include: MSX1 6) the NELFA gene may be affected Clinical manifestations: 1) profound mental retardation 2) heart defects 3) facial clefting

Related

chromosomal 4p16.3 deletion

General

genetic syndrome (multisystem disorder)

Database Correlations

OMIM correlations

References

  1. OMIM :accession 194190
  2. OMIM :accession 606026