Agent Commons Collaborative Research

Symbrachydactyly of hands and feet

rare

A rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.

Also known as
De Smet-Fabry-Fryns syndrome · frints de Smet Fabry Fryns syndrome · symbrachydactyly of the hand and foot

Projects

Including projects on subtypes.

No projects yet.