Molecular genetic testing is available on a clinical basis for p.M390R, the common mutation in BBS1 that is present in approximately 18% - 32% of individuals with BBS and p.C91LfsX4 (also known as C91fsX95), a common mutation in BBS10, that is present [scielo.br]

[…] inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome. 61 Nakane T...Biesecker LG 16104012 2005 38 Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. 61 Hichri H...Dollfus H 15770229 2005 39 Antenatal presentation [malacards.org]

Case presentation The patient was diagnosed with RP at the age of 6 years. She had some difficulty in social interactions and pre-obesity, but no polydactyly. [rrtjournal.biomedcentral.com]

If an individual receives one normal allele and one mutated allele (that is responsible for causing illness), the person will be a carrier for the disease, but usually will not present with symptoms. [rarediseases.org]

• Weight Gain

  Weight is usually normal at birth but weight gain is quickly evident through the first year of life in as many as 90% of people with BBS. [rarediseases.org]

• Anosmia

  […] disabilities Secondary characteristics include: Developmental delays Behavioral problems Neurological problems Hypertension (high blood pressure) Speech disorders Dental anomalies (small teeth, small lower jaw, short teeth) Lack of a sense of smell (anosmia [bardetbiedl.org]

  Hypothyroidism and mild hypertension had been evident since she was an elementary school student, but she did not have diabetes mellitus, central nervous system problems, or anosmia. [rrtjournal.biomedcentral.com]

  These features include the classic cone-rod dystrophy and renal abnormalities previously discussed, as well as less commonly seen, anosmia (inability to smell), hearing loss, and situs inversus. [rarediseases.org]

• Behavior Problem

  problems Neurological problems Hypertension (high blood pressure) Speech disorders Dental anomalies (small teeth, small lower jaw, short teeth) Lack of a sense of smell (anosmia) Flat, wide feet; no arches Thyroid problems Strabismus (“lazy eye” -- one [bardetbiedl.org]

At the same time, it enables scientists to search the “de-identified” (i.e., anonymous) patient information to study conditions and identify targets for treatments, preventions and cures. [fightingblindness.org]

Treatment of gingival overgrowth in a child with Bardet-Biedl syndrome. J Periodontol. 2007;78(6):1159-63. [ Links ] 3. Iannello S, Bosco P, Cavaleri A, Camuto M, Milazzo P, Belfiore F. [scielo.br]

Standard Therapies Treatment The primary treatment goal for patients with BBS involves treating the specific symptoms affecting each individual. [rarediseases.org]

Moreover, some forms of symptomatic treatment may make phenotypes more difficult to clearly discern. [rrtjournal.biomedcentral.com]

Diagnosis of the condition is important for visual prognosis and low vision management. Ophthalmologic and electrophysiological examinations are essential for confirmation and correct diagnosis of BBS(5). [scielo.br]

Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Am J Med Genet. 2005; 132(4):352-60. [ Links ] 8. Bek T, Rosenberg T. [scielo.br]

Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Am J Med Genet A. 2005;132:352-60. Karmous-Benailly H, Martinovic J, Gubler MC, et al. [rarediseases.org]

Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. Indian J Ophthalmol. 2016;64(9): 620-627. Hufnagel RB, Arno G, Hein ND, et al. [rarediseases.org]

Good diet management can prevent the weight-related problems that manifest in later life. Consulting with a primary care physician and a dietician can help in planning for adequate nutrition and prevention of excess weight gain. [rarediseases.org]

At the same time, it enables scientists to search the “de-identified” (i.e., anonymous) patient information to study conditions and identify targets for treatments, preventions and cures. [fightingblindness.org]