Short Case ReportsDistal arthrogryposis type 5D in a South Indian family caused by novel deletion in ECEL1 geneGowda, Mamathaa; Mohan, Shruthia; Ramesh, Devikaa; Chinta, NavyaaAuthor Information aDepartment of Obstetrics and Gynecology, Jawaharlal Institute of Postgraduate Medical Education and Research, Dhanvantri nagar, Gorimedu, Pondicherry, India Received 19 May 2020 Accepted 8 December 2020 Correspondence to Mamatha Gowda, MD, Department of Obstetrics and Gynecology, Jawaharlal Institute of Postgraduate Medical Education and Research, House no.2, New Type VB quarters, JIPMER campus, Dhanvantri nagar, Gorimedu, Pondicherry, India, Tel: +91 9488127716; e-mail: [email protected] Clinical Dysmorphology: April 2021 - Volume 30 - Issue 2 - p 100-103 doi: 10.1097/MCD.0000000000000364 Buy Metrics Abstract Distal arthrogryposis (DA) is a heterogeneous group of disorders with congenital, nonprogressive contractures affecting the joints of distal extremities. About 13 distinct subtypes have been defined based on phenotypic features and the different genes known to be causative typically encode for sarcomeric proteins of the contractile apparatus. Although most subtypes are inherited in autosomal dominant manner, distal arthrogryposis type 5D (DA5D) is the only type inherited as an autosomal recessive disorder with a prevalence of <1/1 000 000. We are reporting the phenotype of three members of a family affected by DA5D caused by a novel deletion in the ECEL1 gene. All of them exhibited the distal arthogryposis involving hands and feet, scoliosis, unilateral drooping shoulder, ptosis, central furrow over tip of the tongue and typical facial features. Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.