distal arthrogryposis type 9

Genetics

• associated with defects in FBN2

Clinical manifestations

• contractures
• arachnodactyly
• scoliosis
• crumpled ears
• absence of a primary neurologic disease or myopathy

More general terms

• arthrogryposis multiplex congenita (distal arthrogryposis)

Database

• OMIM: https://mirror.omim.org/entry/121050