Congenital Single Digit Deformities: Series of Cases in Multiple Families in Remote Villages of Haryana

Abstract

Background and Purpose: Congenital deformities occur due to abnormal development of limbs in the intrauterine life. The exact cause of this type of defect is not known but can be associated with environmental factors (drug history or exposure of chemical effluents from factory) or genetic predisposition. Cases involving the occurrence of single digits in all four limbs were witnessed, and the aim was to study and trace the cause of such deformities. Knowledge of thalidomide induced phocomelia which has already being published in the literature also contributed to our knowledge and understanding. Objectives: (1) Primary objective was to identify the causative agent or genetic factor for the occurrence of single digits in hands and feet in multiple families. (2) Secondary objective was to create awareness among patients and the general public as well as local government authorities regarding such families of “Divyang” patients. We present a case series of multiple families with complete absence of all fingers and toes except one across villages in Haryana. Materials and Methods: Clinical setting: (1) Study was based on a detailed questionnaire which was taken from multiple villagers (Tarawari Village, Nilokheri Village, etc.) and (2) phenotypic examination. Five affected patients from multiple families for 1 year were taken for study from March 2022 to March 2023. Their habitus, lifestyle, and environmental status were all studied and compared with other studies. Efforts were taken to study the license and toxic effluent treatment plan of a chemical factory present in the near vicinity. Results: A strong genetic association was suggested for the occurrence of single digits in the hands and feet of multiple patients across multiple villages close to a chemical factory. They have well adjusted with writing, eating, riding bikes, and four-wheelers with single fingers and toes. Conclusion: There is a need to establish genetic analysis so that the cause of such deformities could be known and prevented. There is also a need for general and government awareness toward pollutants released from chemical factories and their effects.

Keywords

• congenital
• phenotypic
• single finger
• single toes
• teratogens
• thalidomide