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Симбрахідактилія рук і ніг

ORPHA:1570· ICD-10 Q73.8· Symbrachydactyly of hands and feet

Визначення(English summary)

Symbrachydactyly of hands and feet is 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.

Поширеність
<1 / 1 000 000
Вік початку
Antenatal, Neonatal