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