Symphalangism in a Nigerian family: a case report and literature review

Abstract

Background: Symphalangism is a rare congenital abnormality characterized by partial or total absence of interphalangeal joints of both fingers and toes. It is inherited in an autosomal dominance pattern. Both proximal and distal interphlangeal joints can be affected, but proximal interphalangeal joint involvement is much commoner. The condition may be associated with skeletal or non-skeletal abnormalities. Compensatory hyperflexibility of joints proximal and distal to the fused joints is common. Methodology/Results: We present a case of a 42 year-old lady who presented with retrosternal goitre for surgery who on physical examination was found to have proximal symphalangism in both hands and feet. She however gave a history of similar condition in her father who has associated absence of finger nails. She does not complain of any functional impairment in her usual physical activities and hence did not seek for any medical assistance. On further clinical evaluation she was found to have associated hearing impairment. Conclusion: The authors are not aware of any previously reported cases of symphalangism in Nigeria. This case is presented to alert clinicians of its existence and possible association with other abnormalities.