stiff skin syndrome

Genetics

• associated with defects in FBN1

Clinical manifestations

• hard, thick skin, usually over the entire body, which limits joint mobility & causes flexion contractures
• occasional findings include lipodystrophy & muscle weakness

More general terms

• connective tissue disease; soft tissue disease
• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/184900