Guttmacher syndrome

Genetics

• autosomal dominant
• associated with defects in HOXA13

Clinical manifestations

• combination of distal limb & genital tract abnormalities
• several features in common with hand-foot-genital syndrome, including: hypoplastic first digits & hypospadias
• features not seen in hand-foot-genital syndrome include:
  • postaxial polydactyly of the hands
  • uniphalangeal second toes with absent nails

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/176305