[MIM 209 900, 210 350]

Prevalence: 1/130,000 (1/17,000 in Newfoundland or in Bedouins tribes of Kuwait). Malformative syndrome. Autosomal recessive transmission with a large genetic heterogeneity: 14 BBS genes have been identified, which encode for  proteins involved in ciliary function.

This syndrome is now considered as a  separate entity from the Laurence-Moon syndrome (no associated polydactyly), with which he has long been grouped under the names of Laurence-Moon-Biedl or Laurence-Moon-Bardet-Bield syndrome.

It combines:

-         obesity starting in early childhood

-         retinitis pigmentosa: it is in fact a mixed dystrophy of cones and rods ends up in blindness around the age of 30 years. In addition, myopia, glaucoma, cataract

-         postaxial hexadactyly

-         moderate to severe mental retardation

-         renal impairment: disorders of concentration and acidification of the urine sometimes causing polyuria with polydipsia; sometimes progressive renal failure requiring renal transplantation (90%)

-        cardiac problems (66 %): left ventricular hypertrophy, congenital anomaly, cardiomyopathy, pulmonary hypertension; clinical picture can be paucisymptomatic due to inactivity linked to obesity.

-         hypogenitalism in boys and genital malformations in girls (vaginal atresia, uterine malformation ... ) 

-        high risk of abdominal and/or thoracic situs inversus (see heterotaxia)

Sometimes ENT anomalies: bifid epiglottis

Life expectancy is decreased.

Treatment: subcutaneous setmelanotide seems to improve hyperphagia.

Criteria for the clinical diagnosis of Bardet-Biedl syndrome: there must be 4 primary signs or 3 signs primary plus 2 secondary ones

Anesthetic implications: 

difficult venous access, morbid obesity, problematic behavior, obstructive sleep apnea, high blood pressure problems. Check echocardiography (cardiomyopathy, pulmonary arterial hypertension ?) and kidney function (renal transplant in adolescence). Risk of difficult ventilation by mask and problematic intubation increases with age. Risk of abdominal and/or thoracic situs inversus.

References : 

• Low TK, Brown TK. 
  Bardet-Biedl syndrome : review of anaesthetic problems. 
  Paediatr Anaesth 1992; 2: 245-8.
• Dasgupta D, Budhakar A, Baxi V. 
  Inovative way of managing airway in case of Laurence-Moon-Bardet-Biedl syndrome. 
  Indian J Anaesth 2006; 50: 486-7.
• Urben SL, Baugh RF. 
  Otolaryngologic features of Laurence-Moon-Bardet-Biedl syndrome. 
  Otolaryngol Head Neck Surg 199; 120 :571-4.
• Hedge HV, Bhat Pai R, Yaliwal VG, Annigeri VM, Halgeri AB, Rao PR. 
  Management of a 10-month-old child with a rare combination of Bardet-Biedl syndrome and ano-rectal malformation undergoing anterior sagittal ano-rectoplasty. 
  J Anesth 2012; 26: 132-3.
• Mahajan R, Kumar Batra Y, Kumar S, Kumar Grover V. 
  Anesthetic management of a patient with Bardet-Biedl syndrome and dilated cardiomyopathy. 
  Minerva Anestesiologica 2007; 73: 191-4
• Katsika E, Aslanidis T, Charitidou S. 
  Renal transplantation in a patient with Bardet-Biedl syndrome, situs inversus and bifid epiglottis: anesthetic management. 
  Hippokratia 2011; 15: 376
• Bhat MT, Santhosh MCB, Hedge HV, Rao RP. 
  Anesthetic management of a child with Bardet-Biedl syndrome undergoing post-auricular dermoid excision. 
  J Anaesthesiol Clin Pharmacol 2014; 30: 117-8.
• Smith BB, Barbara DW, Hyder JA, Smith MM. 
  Anesthetic considerations for patients with Bardet-Biedl syndrome: a case series and review of the literature. 
  Pediatr Anesth 2016; 26: 429-37. 
• Gencol T, Sergin D, Balcioglu T.
  Anesthetic management of a pediatric patient with Bardet-Biedl syndrome.
  A&A Practice 2018, in press
• Olson AJ, Krentz AD, Finta KM, Okorie UC, Haws RM.
  Thoraco-abdominal abnormalities in Bardet-Biedl syndrome : situs inversus and heterotaxy.
  J Pediatr 2019 ; 204 : 31-7

Updated: July 2023