craniosynostosis 2 (Boston-type)

Pathology

• premature fusion of calvarial sutures

Genetics

• autosomal dominant
• associated with defects in MSX2

Clinical manifestations

• phenotype is either fronto-orbital recession, or frontal bossing, or turribrachycephaly, or cloverleaf skull
• associated features include
  • severe headache
  • high incidence of visual problems
    • myopia or hyperopia
  • short first metatarsals
• intelligence is normal

More general terms

• craniosynostosis

Database

• OMIM: https://mirror.omim.org/entry/604757