tarsal-carpal coalition syndrome

Genetics

• autosomal dominant
• associated with defects in NOG gene
• different mutations in NOG can result in either tarsal-carpal coalition syndrome or multiple synostoses syndrome-1 in different families

Clinical manifestations

• fusion of the carpals, tarsals & phalanges,
• short first metacarpals causing brachydactyly
• humeroradial fusion

More general terms

• genetic syndrome (multisystem disorder)
• developmental disorder

Database

• OMIM: https://mirror.omim.org/entry/186570