Early in life, the child presented a developmental delay: crawling at 18 months, sitting at 24 months, speech acquisition after 3 1/2 years. [hindawi.com]

[…] causes defects in peripheral sensory innervation and function. 61 57 Tan PL...Katsanis N 17959775 2007 43 Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. 61 6 Hichri H...Dollfus H 15770229 2005 44 Antenatal presentation [malacards.org]

Retinal degeneration Retinal dystrophy is one of the hallmarks of the disorder, found occasionally in the first decade but present in almost all patients in the second decade (7). [academic.oup.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]

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

• Turkish

  BBS1 Glu 234 Lys G - A 08 Homozygous Consangiuneous Complex inheritance with homozygous BBS2L1 mutation T211I (1) BBS1 IVS4+1G-A AGgta - AGata 0432 IVS4 Puerto Rican Compound: E549X (2) BBS1 851delA GTACT - GT_CT 0851 10 Turkish Consanguineous Compound [retina-international.org]

• Gagging

  Rican Compound: E549X (2) BBS1 851delA GTACT - GT_CT 0851 10 Turkish Consanguineous Compound: Homozygous (2) BBS1 Met 390 Arg ATG - AGG 1179 12 Puerto Rican Northern European-American Compound: Homozygous E549X Major BBS Mutation (2) BBS1 Glu 549 ter GAG [retina-international.org]

• Poor Coordination

  Additional features of Bardet-Biedl syndrome can include impaired speech, delayed development of motor skills such as standing and walking, behavioral problems such as emotional immaturity and inappropriate outbursts, and clumsiness or poor coordination [medlineplus.gov]

  coordination/imbalance Mild spasticity (especially lower limbs) Diabetes mellitus Dental crowding/hypodontia/small roots/high arched palate Left ventricular hypertrophy/congenital heart disease Hepatic fibrosis Diagnosis of BBS requires the presence [academic.oup.com]

  Neurological impairments may manifest in poor coordination, gross and fine motor skills, and social milestones (eg: ability to play complicated games with other children). [rarediseases.org]

Toxic causes related to 6-mercaptopurine treatment were also excluded by weaning him off the treatment for a prolonged time. [hindawi.com]

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

Etiologies of hepatitis were systematically explored. [hindawi.com]

During the last 12 months, the first three of at least six BBS genes have been identified, providing us for the first time with the ability to formulate hypotheses regarding the molecular etiology of the disorder. [academic.oup.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]

Clinical, genetic and epidemiological studies. J. Neurol. Sci., 9, 479 –513. 4 Farag, T.I. and Teebi, A.S. ( 1989 ) High incidence of Bardet–Biedl syndrome among the Bedouin. Clin. [academic.oup.com]

The pathophysiology is not completely understood but recent studies confirmed the crucial role of proteins encoded by the BBS genes as components of the centrosome and/or basal body, and their implication either in the constitution of the primary cilia [hindawi.com]

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]