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Bardet-Biedl syndrome 16(BBS16)

MedGen UID:
855172
Concept ID:
C3889474
Disease or Syndrome
Synonym: BBS16
 
Gene (location): SDCCAG8 (1q43-44)
 
Monarch Initiative: MONDO:0014444
OMIM®: 615993

Definition

Bardet-Biedl syndrome-16 (BBS16) is an autosomal recessive ciliopathy characterized by retinal degeneration, obesity, renal disease, and cognitive impairment. Although polydactyly is considered a primary feature of BBS overall, it has not been reported in any BBS16 patient (Billingsley et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). [from OMIM]

Clinical features

From HPO
Renal agenesis
MedGen UID:
154237
Concept ID:
C0542519
Congenital Abnormality
Agenesis, that is, failure of the kidney to develop during embryogenesis and development.
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
External genital hypoplasia
MedGen UID:
344478
Concept ID:
C1855333
Finding
Underdevelopment of part or all of the external reproductive organs.
Stage 5 chronic kidney disease
MedGen UID:
384526
Concept ID:
C2316810
Disease or Syndrome
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
Renal dysplasia
MedGen UID:
760690
Concept ID:
C3536714
Congenital Abnormality
The presence of developmental dysplasia of the kidney.
Renal cyst
MedGen UID:
854361
Concept ID:
C3887499
Disease or Syndrome
A fluid filled sac in the kidney.
Polydactyly
MedGen UID:
57774
Concept ID:
C0152427
Congenital Abnormality
A congenital anomaly characterized by the presence of supernumerary fingers or toes.
Obesity
MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
Accumulation of substantial excess body fat.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Cognitive impairment
MedGen UID:
90932
Concept ID:
C0338656
Mental or Behavioral Dysfunction
Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Bronchiolitis
MedGen UID:
14235
Concept ID:
C0006271
Disease or Syndrome
Inflammation of the bronchioles.
Respiratory distress
MedGen UID:
96907
Concept ID:
C0476273
Sign or Symptom
Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.
Recurrent respiratory infections
MedGen UID:
812812
Concept ID:
C3806482
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Recurrent otitis media
MedGen UID:
155436
Concept ID:
C0747085
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Hypogonadism
MedGen UID:
5711
Concept ID:
C0020619
Disease or Syndrome
A decreased functionality of the gonad.
Retinal degeneration
MedGen UID:
48432
Concept ID:
C0035304
Finding
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Rod-cone dystrophy
MedGen UID:
1632921
Concept ID:
C4551714
Disease or Syndrome
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.

Professional guidelines

PubMed

Deng L, Liu Y, Yuan M, Meng M, Yang Y, Sun L
Clin Chim Acta 2022 Mar 1;528:16-28. Epub 2022 Jan 20 doi: 10.1016/j.cca.2022.01.012. PMID: 35065907
Tang X, Liu C, Liu X, Chen J, Fan X, Liu J, Ma D, Cao G, Chen Z, Xu D, Zhu Y, Jiang X, Cheng L, Wu Y, Hou L, Li Y, Shao X, Zheng S, Zhang A, Zheng B, Jian S, Rong Z, Su Q, Gao X, Rao J, Shen Q, Xu H; Chinese Children Genetic Kidney Disease Database (CCGKDD); “Internet Plus” Nephrology Alliance of the National Center for Children’s Care
J Med Genet 2022 Feb;59(2):147-154. Epub 2020 Dec 15 doi: 10.1136/jmedgenet-2020-107184. PMID: 33323469
Florea L, Caba L, Gorduza EV
Genes (Basel) 2021 Aug 29;12(9) doi: 10.3390/genes12091353. PMID: 34573333Free PMC Article

Recent clinical studies

Etiology

Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J
Lancet Diabetes Endocrinol 2022 Dec;10(12):859-868. Epub 2022 Nov 7 doi: 10.1016/S2213-8587(22)00277-7. PMID: 36356613Free PMC Article
Pomeroy J, VanWormer JJ, Meilahn JR, Maki T, Murali HR, Haws RM
Orphanet J Rare Dis 2021 Jun 14;16(1):276. doi: 10.1186/s13023-021-01911-4. PMID: 34127036Free PMC Article
Pomeroy J, Krentz AD, Richardson JG, Berg RL, VanWormer JJ, Haws RM
Pediatr Obes 2021 Feb;16(2):e12703. Epub 2020 Jul 22 doi: 10.1111/ijpo.12703. PMID: 32700463Free PMC Article
Haws RM, Joshi A, Shah SA, Alkandari O, Turman MA
Pediatr Nephrol 2016 Nov;31(11):2153-61. Epub 2016 Jun 1 doi: 10.1007/s00467-016-3415-4. PMID: 27245600
Imhoff O, Marion V, Stoetzel C, Durand M, Holder M, Sigaudy S, Sarda P, Hamel CP, Brandt C, Dollfus H, Moulin B
Clin J Am Soc Nephrol 2011 Jan;6(1):22-9. Epub 2010 Sep 28 doi: 10.2215/CJN.03320410. PMID: 20876674Free PMC Article

Diagnosis

Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J
Lancet Diabetes Endocrinol 2022 Dec;10(12):859-868. Epub 2022 Nov 7 doi: 10.1016/S2213-8587(22)00277-7. PMID: 36356613Free PMC Article
Elawad OAMA, Dafallah MA, Ahmed MMM, Albashir AAD, Abdalla SMA, Yousif HHM, Daw Elbait AAE, Mohammed ME, Ali HIH, Ahmed MMM, Mohammed NFN, Osman FHM, Mohammed MAY, Abu Shama EAE
J Med Case Rep 2022 Apr 29;16(1):169. doi: 10.1186/s13256-022-03396-6. PMID: 35484558Free PMC Article
Florea L, Caba L, Gorduza EV
Genes (Basel) 2021 Aug 29;12(9) doi: 10.3390/genes12091353. PMID: 34573333Free PMC Article
Pomeroy J, Krentz AD, Richardson JG, Berg RL, VanWormer JJ, Haws RM
Pediatr Obes 2021 Feb;16(2):e12703. Epub 2020 Jul 22 doi: 10.1111/ijpo.12703. PMID: 32700463Free PMC Article
Valente EM, Dallapiccola B, Bertini E
Handb Clin Neurol 2013;113:1879-88. doi: 10.1016/B978-0-444-59565-2.00058-7. PMID: 23622411

Therapy

Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J
Lancet Diabetes Endocrinol 2022 Dec;10(12):859-868. Epub 2022 Nov 7 doi: 10.1016/S2213-8587(22)00277-7. PMID: 36356613Free PMC Article
Haws R, Brady S, Davis E, Fletty K, Yuan G, Gordon G, Stewart M, Yanovski J
Diabetes Obes Metab 2020 Nov;22(11):2133-2140. Epub 2020 Jul 22 doi: 10.1111/dom.14133. PMID: 32627316Free PMC Article
Olson AJ, Krentz AD, Finta KM, Okorie UC, Haws RM
J Pediatr 2019 Jan;204:31-37. Epub 2018 Oct 4 doi: 10.1016/j.jpeds.2018.08.068. PMID: 30293640
Haws RM, Joshi A, Shah SA, Alkandari O, Turman MA
Pediatr Nephrol 2016 Nov;31(11):2153-61. Epub 2016 Jun 1 doi: 10.1007/s00467-016-3415-4. PMID: 27245600
Mozaffarian G, Nakhjavani MK, Farrahi A
Fertil Steril 1979 Apr;31(4):417-22. doi: 10.1016/s0015-0282(16)43940-3. PMID: 428588

Prognosis

Best S, Yu J, Lord J, Roche M, Watson CM, Bevers RPJ, Stuckey A, Madhusudhan S, Jewell R, Sisodiya SM, Lin S, Turner S, Robinson H, Leslie JS, Baple E; Genomics England Research Consortium, Toomes C, Inglehearn C, Wheway G, Johnson CA
J Med Genet 2022 Dec;59(12):1151-1164. Epub 2022 Jun 28 doi: 10.1136/jmedgenet-2022-108476. PMID: 35764379Free PMC Article
Deng L, Liu Y, Yuan M, Meng M, Yang Y, Sun L
Clin Chim Acta 2022 Mar 1;528:16-28. Epub 2022 Jan 20 doi: 10.1016/j.cca.2022.01.012. PMID: 35065907
Atmış B, Karabay-Bayazıt A, Melek E, Bişgin A, Anarat A
Turk J Pediatr 2019;61(2):186-192. doi: 10.24953/turkjped.2019.02.006. PMID: 31951329
Haws RM, Joshi A, Shah SA, Alkandari O, Turman MA
Pediatr Nephrol 2016 Nov;31(11):2153-61. Epub 2016 Jun 1 doi: 10.1007/s00467-016-3415-4. PMID: 27245600
Russell-Eggitt IM, Clayton PT, Coffey R, Kriss A, Taylor DS, Taylor JF
Ophthalmology 1998 Jul;105(7):1274-80. doi: 10.1016/S0161-6420(98)97033-6. PMID: 9663233

Clinical prediction guides

Best S, Yu J, Lord J, Roche M, Watson CM, Bevers RPJ, Stuckey A, Madhusudhan S, Jewell R, Sisodiya SM, Lin S, Turner S, Robinson H, Leslie JS, Baple E; Genomics England Research Consortium, Toomes C, Inglehearn C, Wheway G, Johnson CA
J Med Genet 2022 Dec;59(12):1151-1164. Epub 2022 Jun 28 doi: 10.1136/jmedgenet-2022-108476. PMID: 35764379Free PMC Article
Pomeroy J, VanWormer JJ, Meilahn JR, Maki T, Murali HR, Haws RM
Orphanet J Rare Dis 2021 Jun 14;16(1):276. doi: 10.1186/s13023-021-01911-4. PMID: 34127036Free PMC Article
Pomeroy J, Krentz AD, Richardson JG, Berg RL, VanWormer JJ, Haws RM
Pediatr Obes 2021 Feb;16(2):e12703. Epub 2020 Jul 22 doi: 10.1111/ijpo.12703. PMID: 32700463Free PMC Article
Haws R, Brady S, Davis E, Fletty K, Yuan G, Gordon G, Stewart M, Yanovski J
Diabetes Obes Metab 2020 Nov;22(11):2133-2140. Epub 2020 Jul 22 doi: 10.1111/dom.14133. PMID: 32627316Free PMC Article
Olson AJ, Krentz AD, Finta KM, Okorie UC, Haws RM
J Pediatr 2019 Jan;204:31-37. Epub 2018 Oct 4 doi: 10.1016/j.jpeds.2018.08.068. PMID: 30293640

Recent systematic reviews

Sonner S, Reilly K, Woolf AS, Chandler N, Kilby MD, Maher ER, Flanagan C, McKnight AJ, Mone F
Prenat Diagn 2024 Feb;44(2):187-195. Epub 2023 Dec 6 doi: 10.1002/pd.6479. PMID: 38056891
Deng L, Liu Y, Yuan M, Meng M, Yang Y, Sun L
Clin Chim Acta 2022 Mar 1;528:16-28. Epub 2022 Jan 20 doi: 10.1016/j.cca.2022.01.012. PMID: 35065907

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