Table 4.

Recommended Initial Evaluations and Surveillance in Individuals with Bardet-Biedl Syndrome

System/ConcernInitial EvaluationFrequency of Surveillance 1
Constitutional
  • Measure height, weight, head & waist circumference.
  • Detailed dietary history: caloric intake & dietary components
  • Assess daily physical activity level.
At every health care visit
Eyes/Vision Ophthalmologic consultation in:
  • Infants / young children: assess for strabismus, nystagmus, & impaired visual acuity.
  • Older children / adults: assess for cataracts & impaired vision; perform visual field testing & electroretinography.
Annually or as directed by ophthalmologist
Oral/dental
abnormalities 		Routine dental careEvery 6 mos starting at age 1 yr
Cardiovascular
& other thoraco-
abdominal
abnormalities
  • Echocardiogram to assess for congenital heart defect &/or cardiomyopathy
  • Complete abdominal US to assess for laterality defects
  • If initial eval is normal, only if cardiac symptoms/signs develop
  • If anatomic abnormality is present, more frequent monitoring as directed by cardiologist
Respiratory Monitor for:
  • Symptoms of obstructive sleep apnea (e.g., snoring);
  • Recurrent infection that could indicate ciliary dysfunction.
Annually
Gastrointestinal
  • Assess for anatomic abnormalities.
  • Monitor for symptoms/signs of IBD & celiac disease.
Liver
  • Liver US to evaluate for liver fibrosis & steatosis
  • Lab assessments incl hepatic enzymes & tests of synthetic function (PT, PTT)
  • Annually if normal
  • Persons w/liver disease should be monitored as directed by hepatologist.
Renal
  • Renal US to evaluate for congenital anomalies & assess for evidence of parenchymal disease 2
  • Lab assessments incl CBC, serum electrolytes, creatine, BUN, cystatin C
  • Measure blood pressure w/24-hr blood pressure monitoring as needed.
  • Annually if normal
  • Persons w/kidney disease should be monitored as directed by nephrologist.
Urologic Ask about symptoms of neurogenic bladder & bladder outflow obstruction.Annually
Metabolic
syndrome
  • Lipid panel (triglycerides, HDL, LDL, total cholesterol)
  • Fasting blood glucose & HgbA1c
  • Annually starting at age 4 yrs if normal
  • Those w/metabolic syndrome will require more frequent monitoring by experienced provider.
Hypothyroidism Check thyroid gland function.Annually
Hypogonadism
  • Pelvic US in females to assess for malformations of uterus, fallopian tubes, ovaries, & vagina
  • Check FSH, LH, estrogen, & testosterone levels if indicated due to delayed puberty.
Annual lab assessment starting at age 13 yrs if indicated
Musculoskeletal Skeletal surveyAs needed if signs/symptoms of scoliosis, polydactyly, or joint disease
Development
  • Developmental &/or neurocognitive assessment
  • Consider brain MRI if neurologic abnormalities (i.e., ataxia, hypotonia, seizures). 3
  • Routine developmental assessments during early childhood
  • School-aged persons should have annual IEP/504 plans.
Psychiatric/
Behavioral 		Neuropsychiatric eval if signs/symptoms of atypical behaviors or mood disorderAs needed
Genetic
counseling 		By genetics professionals 4To inform affected persons & their families re nature, MOI, & implications of BBS to facilitate medical & personal decision making
Family support
& resources 		Assess:

BUN = blood urea nitrogen; CBC = complete blood cell count; FSH = follicle-stimulating hormone; HDL = high-density lipoproteins; HgbA1c = hemoglobin A1c; IBD = inflammatory bowel disease; IEP = individualized education program; LDL = low-density lipoproteins; LH = luteinizing hormone; MOI = mode of inheritance; PT = prothrombin time; PTT = partial thromboplastin time; SNHL = sensorineural hearing loss; US = ultrasound

1.

Recommended frequencies shown are for individuals who are stable and well-controlled. In many instances more frequent evaluations are needed. Individuals should be evaluated by a medical geneticist every one to two years, as they can help with coordination of care.

2.

Prenatal ultrasonography may detect renal cysts but can be normal in 39% of individuals with renal abnormalities detected postnatally [Mary et al 2019].

3.

MRI of the brain may show diffuse white matter loss predominantly in the occipital region, reduced grey matter in subcortical regions (caudate, putamen, thalamus), reduced hippocampal volume, and hippocampal dysgenesis [Baker et al 2011, Keppler-Noreuil et al 2011].

4.

Medical geneticist, certified genetic counselor, or certified advanced genetic nurse

From: Bardet-Biedl Syndrome Overview

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.