Adams-Oliver syndrome (type 2)

Genetics

• associated with defects in DOCK6

Clinical manifestations

• congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects
• absence of skin may occur anywhere on the body
  • most frequently occurs on the posterior parietal region often associated with an underlying defect of the parietal bones
• limb defects include limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly)
• rarely, metatarsals/metacarpals or more proximal limb structures are also affected
• syndactyly, most commonly of second & third toes, may also occur
• clinical features are highly variable & can also include:
  • cardiovascular malformations
  • brain abnormalities
  • vascular defects such as
    • cutis marmorata
    • dilated scalp veins

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/614219