Bardet-Biedl-syndrome

The incidence is 1: 160,000 in Northern Europe and higher in some Arab populations at 1: 13,500 (Forsythe 2013).

The condition is inherited in an autosomal recessive pattern; to date, 26 genes (including the FBN3 gene) have been identified (Dollfus H et al. 2024; Forsythe 2013).

The syndrome is characterized by the following symptoms:

• mental retardation
• retinopathy (Beetz 2013)
• Obesity
• Polydactyly
• Renal malformations
• Hypogenitalism in male patients (Risler 2008)

Bardet-Biedl syndrome and the skin: In a large study (n = 31 individuals aged 2 to 69 years), all participants exhibited skin findings. Keratosis pilaris was found in 80.6% of the participants, and seborrheic dermatitis in 19.3%. Additionally, xerosis of the skin was present in 81%.

Obesity, a key feature of Bardet-Biedl syndrome, was present in the majority of participants (90.3%) and was accompanied by known dermatological symptoms associated with obesity (pseudoacanthosis nigricans (35%, striae cutis distensae [32%]). The skin disorders suggest a disturbance in keratinization and keratinocyte function (Haws RM et al. 2019). The occurrence of linear porokeratosis should also be interpreted in this context (Tappel AC et al. 2019).

The diagnosis is usually based on the above-mentioned clinical abnormalities and on genetic testing (Forsythe 2013).

Treatment consists of regular multidisciplinary monitoring (Forsythe 2013).

1. Bartels, H. (2013) Renal Masses on Ultrasound: Textbook and Atlas. Springer Verlag 121
2. Beetz, R., et al. (2011) Pediatric Urology in the Hospital and Clinic. Thieme Verlag 256
3. Berwanger B et al. (2002) Alström Syndrome: A Differential Diagnosis for Bardet-Biedl Syndrome. A Differential Diagnosis for Bardet-Biedl Syndrome. Monatsschrift Kinderheilkunde (150) 58–61
4. Braune, K. (2017) Characterization of ALMS1 (Alström syndrome 1) transcripts in Hodgkin lymphoma cells. Dissertation submitted to the Faculty of Medicine at Martin Luther University Halle-Wittenberg for the degree of Doctor of Medicine (Dr. med.).
5. Danne T et al. (2016) Obesity, Diabetes, and Lipid Metabolic Disorders in Childhood. Walter de Gruyter Verlag 5
6. Deeg K H et al. (2014) Ultrasound Diagnostics in Pediatrics and Pediatric Surgery. Thieme Verlag 864–866
7. Dollfus H et al. (2024) Bardet-Biedl syndrome: improved diagnostic criteria and management—Inter-European Reference Networks consensus statement and recommendations. Eur J Hum Genet 32:1347–1360. 
8. Engelskirchen R et al. (2006) Asphyxiating Thoracic Dysplasia (Jeune Syndrome): Successful Multistage Correction. Monthly Journal of Pediatrics (12)
9. Entezami M et al. (2002) Sonographic Diagnosis of Malformations: A Teaching Atlas of Fetal Ultrasound. Selected Syndromes and Associations. Thieme Verlag 245
10. Forsythe E et al. (2013) Bardet-Biedl syndrome. Eur J Hum Genet 21, 8–13. https://doi.org/10.1038/ejhg.2012.115
11. Ganten D et al. (2013) Monogenic Inherited Diseases 2: Handbook of Molecular Medicine. Springer Verlag 291–292
12. Gimpel C et al. (2019) Imaging Diagnostics in Children with Renal Cysts and Cystic Kidneys. Monthly Journal of Pediatrics (167) 530–538
13. Haws RM et al. (2019) Cutaneous findings in Bardet-Biedl syndrome. Int J Dermatol 58:1160–1164.
14. Hegele A et al. (2015) Urology: Intensive Course for Continuing Education. Thieme Verlag 117–121, 124–129
15. Heinrich M et al. (2019) Pediatric Surgery: Basic Knowledge and Practice. W. Zuckschwerdt Verlag 192–193
16. Herold G et al. (2021) Internal Medicine. Herold Verlag 630–634
17. Hofmann V et al. (2005) Ultrasound Diagnostics in Pediatrics and Pediatric Surgery. Georg Thieme Verlag 439, 453–454
18. Kasper D L et al. (2015) Harrison’s Principles of Internal Medicine. McGraw-Hill Education 1850–1856
19. Kasper D L et al. (2016) Harrison’s Internal Medicine. Georg Thieme Verlag 2279–2285
20. Keller C K et al. (2010) Practice of Nephrology. Springer Verlag 43–51, 53–54
21. Kemper, M., et al. (2020) S2k Guideline on Renal Cysts and Cystic Kidney Diseases: Renal Cysts and Cystic Kidney Diseases in Children. AWMF Register No. 166/003
22. Knaup K X et al. (2019) Autosomal-Dominant Tubulointerstitial Kidney Diseases (ADTKD). The Nephrologist. DOI https://doi.org/10.1007/s11560-019-0318-y
23. Korinthenberg R et al. (2009) Neuropediatrics: Evidence-Based Therapy. Urban und Fischer Verlag 19
24. Kuhlmann U et al. (2015) Nephrology: Pathophysiology—Clinical Presentation—Renal Replacement Therapy. Thieme Verlag 64, 653–665
25. Lerchbaumer, M. H. (2018) “The Bosniak Classification of Renal Cysts on Contrast-Enhanced Ultrasound (CEUS) Compared to Computed Tomography and Magnetic Resonance Imaging” Doctoral dissertation submitted to the Faculty of Medicine at Charité – Universitätsmedizin Berlin for the degree of Doctor medicinae (Dr. med.)
26. Manski, D. (2019) The Textbook of Urology. Dirk Manski Verlag, pp. 231–236
27. Michels G et al. (2010) Clinical Manual of Internal Medicine. Springer Verlag, pp. 504–505
28. Risler T et al. (2008) Specialist in Nephrology. Elsevier Urban and Fischer Publishing, pp. 372–373, 752–754
29. Schmidt F et al. (2006) Long-Term Rosiglitazone Therapy in Patients with Alström–Hallgren Syndrome. Diabetology and Metabolism 1 (3): 168–172
30. Sohn C et al. (2013) Ultrasound in Gynecology and Obstetrics. Thieme Verlag 243–244

31. Tappel AC et al. (2019) Linear porokeratosis associated with Bardet-Biedl syndrome: A case report. Pediatr Dermatol 36:346–348.

32. Wang Y et al. (2017) The FBN3 gene is involved in the pathogenesis of a Chinese family with Bardet-Biedl syndrome. *Oncotarget* 8:86718–86725.