BOHRING OPITZ SYNDROME: A PATH TOWARDS HOPE AND CARE, NAVIGATING THE COMPLEXITIES OF RARE GENETIC DISORDER UNDERSTANDING DEVELOPMENTAL DYNAMICS, CLINICAL ADVANCEMENT AND MANAGEMENT– A CASE REPORT

Bohring–Opitz syndrome (BOS) is a rare congenital disorder of unknown etiology diagnosed on the basis of distinctive clinical features, facial features, growth and feeding difficulties, severe developmental delay or intellectual disability, seizures, and a recognizable upper-limb posture with elbow flexion, ulnar deviation, and flexion of the wrists and metacarpophalangeal joints. Other manifestations may include microcephaly or trigonocephaly, hypertrichosis, palatal abnormalities, visual problems, congenital cardiac anomalies, recurrent respiratory infections, sleep apnea, renal abnormalities, scoliosis, and gastrointestinal dysmotility. Most molecularly confirmed cases are associated with heterozygous pathogenic variants in ASXL1. The condition may involve neurological, respiratory, gastrointestinal, cardiovascular, ophthalmologic, musculoskeletal and genitourinary systems. There is no curative treatment; care focuses on nutrition, prevention of complications, developmental intervention and multidisciplinary follow-up. Care is primarily supportive and requires coordinated nursing care and the nurses play a important role in this.