Table 4.

Synopsis of main points for BBS patient care for BBS main clinical manifestations.

GENETIC COUNSELLING
General recommendation	• Genetic counselling is advocated for parents, patients and family members • Genetic molecular testing has to be performed when available
General anesthesia
General recommendation	• Detailed and close supervision of any general anaesthesia (GA) with use of advanced procedures (video-laryngoscopy or intubation techniques under bronchial fibroscopy) particularly in adults. • No contraindication to GA if the preoperative, intraoperative and postoperative assessments are closely monitored.
Endocrinology
Obesity	• Multidisciplinary care: paediatricians, endocrinologists, dieticians, psychologists, physiotherapist, social workers • Lifestyle recommendations at first: regular physical activity, dietary and eating behaviour follow-up • Pharmacological treatment if accessible and according to indications: - MC4R agonist (Setmelanotide) - Incretin-based pharmacotherapy available for common obesity has to be evaluated in BBS • Obesity surgery: bariatric surgery has to be evaluated long-term
Other endocrine disorders:	• Male hypogonadism: Standard Testosterone replacement therapy (late childhood/adolescence), GnRH pump and gonadotropins can be used in adulthood • Diabetes: Standard Metformin, GLP-1 analogues & SGLT2 inhibitors (NB: these 2 last drugs have not been evaluated) • Hypothyroidism: Standard levothyroxine therapy (dose adapted to age and weight) • Short Stature with proven GH deficiency: Standard recombinant GH in childhood
Global recommendation	• Lifestyle measures (diet, eating behaviour, physical activity) and psychosocial support are to be considered first for obesity. • Setmelanotide and/or incretin-based new therapy should be discussed with expert centres. • Follow current guideline of the International Obesity Task force [40, 41] • Interventions need to be tailored, as regular programs are not suitable for children with developmental delay.
Uro-nephrology
Specific care	• Polyuria: Daily management of polyuria and risk of dehydration in case of abnormal fluid losses. • Hypertension: Importance of diet to prevent or treat hypertension, and to prevent or to manage obesity/diabetes [58, 59] • IF CKD=>Follow up is adapted according to current guidelines on management of chronic kidney disease [56]. CKD therapy follow recommendation according to CKD stage: medical, dialysis, transplantation (immunosuppression as recommended / obesity)
Global recommendation	• Avoid nephrotoxic drugs in general • If High Blood Pressure=>regular electrocardiogram and cardiac ultrasound are advocated. • If High Blood Pressure & diabetes & CKD=>perform cardiac ischemia test according to recommendation • If dysfunctional voiding=>risk of Urinary Tract Infection to be prevented and managed according to current recommendation
Ophthalmology
Specific care	• Low vision care & visual aids adapted to age • Corrected glasses with tinted filters if needed • School & work adaptation to visual handicap & Rehabilitation sessions • Registration as poorly sighted/blind and follow standard recommendations • White cane/dog/Apps if needed • Cataract surgery if needed • Cystoid macular edema local or systemic therapy if needed
Developmental anomalies
Specific care	• Orthopaedic Surgery for polydactyly (usually in childhood) & scoliosis • Podiatry equipment for brachydactyly • Surgery for urogenital track malformation (ex: hydrometrocolpos) • Neuropsychological or psychiatric care according to evaluation (ranging from occasional care, daily care, to long duration care) • Psychological treatment and family support

Note: they follow the learned societies and current international guidelines referenced herein.