Symbrachydactyly of hands and feet

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

0 clinical trials for this condition and its sub-types, 0 tagged with Symbrachydactyly of hands and feet itself.