selective tooth agenesis (familial tooth agenesis)

Epidemiology

• common, ~ 20% of population

Genetics

• type 1:
  • autosomal dominant
  • associated with defects in MSX1
• type 2:
  • autosomal recessive
  • linked to chromosome 16q12.1
• type 3
  • autosomal dominant
  • linked to PAX9
• type 4
  • autosomal dominant with incomplete penetrance
  • linked to WNT10A
• type 5
  • linked to chromosome 10q11.2-q21
• type 6
  • linked to LTBP3

Clinical manifestations

• congenital absence of one or more teeth
• some individuals with type 6 may have short stature

More general terms

• hypodontia
• genetic disease of the teeth

Database

• OMIM: https://mirror.omim.org/entry/106600
• OMIM: https://mirror.omim.org/entry/602639
• OMIM: https://mirror.omim.org/entry/604625
• OMIM: https://mirror.omim.org/entry/150400
• OMIM: https://mirror.omim.org/entry/610926
• OMIM: https://mirror.omim.org/entry/613097