Split hand/foot malformation: Report of 13 cases in a family with variable presentation

Abstract

Introduction: Split hand/foot (SHSF) malformation is characterized by variable suppression of central digital rays. It is a rare congenital hand and foot anomaly usually showing autosomal dominant pattern of inheritance. We report this rare anomaly of hand and foot in a family with 13 cases to discuss its inheritance pattern and clinical features. Observation: One family of 27 members has been identified in which 13 members are affected. The disease has been running dominantly in the family and variably affecting both males and females. Morphologically there is partial or complete absence of central second to fourth digital rays with variable syndactyly and bony changes in adjacent rays. Conclusion: SHSF malformation is type of longitudinal arrest of development of central digital rays. Various theories regarding causation of disease have been proposed. The presentation of disease varies due to varying severity of involvement. Early appropriate surgical intervention is essential in selected cases to achieve a good functional limb.

Keywords

• malformation
• split foot
• split hand