distal arthrogryposis type 2A (Freeman-Sheldon syndrome)

Genetics

• autosomal dominant
• associated with defects in MYH3

Clinical manifestations

• most severe form of distal arthrogryposis
• contractures of the orofacial muscles, characterized by
  • microstomia with pouting lips
  • H-shaped dimpling of the chin
  • deep nasolabial folds
  • blepharophimosis
• dysphagia
• failure to thrive
• growth deficit,
• life-threatening respiratory complications (caused by structural anomalies of the oropharynx & upper airways)

Laboratory

• see ARUP consult

More general terms

• arthrogryposis multiplex congenita (distal arthrogryposis)

Database

• OMIM: https://mirror.omim.org/entry/193700