Understanding Bardet-Biedl Syndrome: Unveiling the Complexities of this Rare Genetic Disorder and its Systematic Review to Identify its Various Variants with Genetic Analysis.

Abstract

Background: There are a variety of clinical features associated with Bardet-Biedl Syndrome (BBS), a rare genetic disorder affecting several organ systems. First identified in the early 20th century, BBS has since been the subject of extensive research to understand its underlying genetics, clinical presentation, and management. This article provides a comprehensive background on BBS, highlighting its clinical manifestations, genetic basis, and current research efforts. Introduction: BBS is a multisystem, genetic, autosomal recessive heterogeneous cilia structural and functional disorder (occurs when one gene influences two or more seemingly unrelated phenotypic traits) characterized by structural and functional abnormalities of organ and tissues with diverse embryonic derivation. It was first described by Laurence and Moon in 1866. It is caused by loss of proteins coding by the BBS gene. It is characterized by retinal degeneration, post-axial polydactyly, obesity, cognitive deficit, hypogonadism, and cognitive dysfunction. Associated features are diabetes mellitus, hypertension, congenital heart disease, speech defects, dental anomalies, and hepatic fibrosis. In order to diagnose the BBS, molecular genetic tests, such as whole-exome sequencing or whole-genome sequencing is considered useful. Case: A 16 year old girl presented to us in the general medicine ward through the Emergency department with the complaints of dyspnea for six months, fever for three days, and dysuria for three days. Her fever was associated with rigors and chills. On further questioning, her urine was reported to have a bad smell. Past medical history was positive for otitis media and falls. She needed walking support as she was unable to see at night time. On physical examination a young lady was laying in the supine position. She was pale, obese and had high respiratory rate. There was no lymphadenopathy. Extra digits were noted in her upper and lower limbs. Rest of the physical examination was normal. The patient was started on 2 liters of oxygen and blood samples were taken for laboratory investigations. Conclusion: As this was diagnosed on time, so it helped both the family and physcians to check on her weight, respiratory functions, skeletal abnormalities, sexual development, visual acquity, cardiac functioning, hepatic functioning and hematologic stability such as hemoglobin. Being a very rare disease a therefore this disease awareness is necessary among physicians to diagnose the disease early and treat the complications of the disease so that the complications do not progress to the stage where it is irreversible. Early detection of renal problem, visual problems, obesity, and learning disabilities is necessary to be treated on time by involving multidisciplinary approaches.