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.
MONDO:0017424
non-syndromic brachydactyly
is_a
De Smet-Fabry-Fryns syndrome
exact
frints de Smet Fabry Fryns syndrome
exact
symbrachydactyly of the hand and foot
exact