Three out of 4 patients presented variants in two additional genes, while patient #6 presented a variant with unknown significance (VUS) in BBS1 in addition to the “principal variants” in BBS12. [ijponline.biomedcentral.com]

Discussion Patients with BBS present with a unique association of clinical features and disclose a remarkable genetic heterogeneity. [nature.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]

Entry statusi Reviewed (UniProtKB/Swiss-Prot) Annotation program Chordata Protein Annotation Program Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.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]

  Abnormal weight gain typically begins in early childhood and continues to be an issue throughout life. [medlineplus.gov]

• Delayed Speech Development

  speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language [rarediseases.info.nih.gov]

• Macrocephaly

  […] between one and six teeth 0000668 Hypogonadism Decreased activity of gonads 0000135 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Left ventricular hypertrophy 0001712 Macrocephaly [rarediseases.info.nih.gov]

• Delayed Speech and Language Development

  speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language [rarediseases.info.nih.gov]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

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]

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

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. [uniprot.org]

There is currently no treatment for BBS, but some of the co-morbidities can be managed. [ijponline.biomedcentral.com]

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]

Bardet–Biedl syndrome: genetics, molecular pathophysiology, and disease management. Indian J Ophthalmol. 2016;64(9):620. Article Google Scholar 12. Imhoff O, Marion V, Stoetzel C, Durand M, Holder M, Sigaudy S, et al. [ijponline.biomedcentral.com]

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]