Symbrachydactyly: a rare congenital anomaly – A case report

Abstract

Introduction: Symbrachydactyly is a rare unilateral congenital hand anomaly with an incidence of approximately 1 in 32,000 babies born each year. It usually presents with shortened or absent central digits, sparing border digits. It can occur following an insult to the apical ectodermal ridge mainly affecting the vascular supply of the upper limb. According to the extent of skeletal involvement of the hand, there are variety of clinical presentations. This paper presents a case of symbrachydactyly involving the right upper limb with absent central digits, highlighting the presentation, classification, etiology, and possibilities of effective management. 

Case report: A 38-year-old mother of 2 children presented in her 3rd pregnancy, following an uncomplicated pregnancy period. She was not exposed to any chemicals or radiation during pregnancy. A male neonate was born following an uncomplicated normal vaginal delivery. The neonate was born with absent fingers on the right hand, which were not identified prenatally. He had a normal left hand. The parents were counseled and the baby was referred to a pediatric plastic surgeon after a multidisciplinary meeting. 

Conclusion: Symbrachydactyly, despite its rarity, can significantly affect the child’s quality of life. In this case, the neonate had absent middle fingers with two nubbins instead of border digits on the right hand, which can be classified under the peromelic type according to the Blauth classification. Prevention is challenging due to uncertain etiology. The child’s quality of life is limited by the degree of skeletal involvement. Depending on the degree of involvement, surgical or non-surgical methods and rehabilitation can improve the function of the hand.