Clinico-Epidemiological Study of Iraqi Children with Sanjad Sakati Syndrome

Abstract Background: Sanjad Sakati syndrome (SSS), also known as hypoparathyroidism–retardation–dysmorphism, is a very rare genetic disease caused by a mutation in the tubulin co-factor E gene. It is a chronic, progressive condition for which palliation is the basis of care. Objectives: The objective of this study is to investigate the clinico-epidemiological features of patients with SSS in a highly specialized endocrine center in Iraq. Materials and Methods: This is an observational retrospective study including all patients with SSS who were registered in the endocrine clinic of the Children Welfare Teaching Hospital/Medical City Complex in Baghdad, Iraq. The demographic data and information regarding history and physical examination concentrating on dysmorphic features, results of investigations, drugs used, and any comorbidities were collected and documented. Results: A total of 24 patients were registered and included in the study, with 14 (58.3%) males and 10 (41.7%) females, resulting in a male-to-female ratio of 1.4:1. Thirteen patients (54.2%) were diagnosed during the first year of life. Nineteen patients (79.1%) had low birth weight, and consanguinity between parents was positive in 15 patients (62.5%). All patients (100%) presented failure to thrive, dysmorphic features, and developmental delay. Nephrocalcinosis was present in 11 patients (45.8%). Comorbidities included growth hormone deficiency in 20.8%, hypothyroidism in 16.7%, and epilepsy in 8.3% of patients. One patient had intestinal pseudo-obstruction, and two patients (8.3%) died due to recurrent chest infections. Conclusion: In conclusion, although SSS is a rare disease, its incidence has increased in Iraq. Its management requires teamwork to improve the quality of life of affected individuals and address complications and comorbidities. Genetic counseling is also crucial for decreasing its incidence.