Wolf-Hirschhorn syndrome

Pathology

• malformation syndrome associated with a hemizygous chromosome 4p16.3 deletion

Genetics

• chromsome 4p16.3 deletion
• sub-telomeric deletions in the short arm of chromosome 4 involving WHSC1 at chromosome 4p16.3
• WHSC1 is deleted in every case
• deletion of linked genes contributes to both the severity disease & the presence of the additional syndromic features
• linked genes include: MSX1
• the NELFA gene may be affected

Clinical manifestations

• profound mental retardation
• heart defects
• facial clefting

More general terms

• genetic syndrome (multisystem disorder)

Additional terms

• chromosomal 4p16.3 deletion

Database

• OMIM: https://mirror.omim.org/entry/194190
• OMIM: https://mirror.omim.org/entry/606026