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]

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]

Such founder mutations have been shown to exist in Newfoundland for several disorders such as multiple endocrine neoplasia (55), familial adenomatous polyposis (56) and hereditary non-polyposis colorectal cancer (57). [academic.oup.com]

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]

teeth, small lower jaw, short teeth) Lack of a sense of smell (anosmia) Flat, wide feet; no arches Thyroid problems Strabismus (“lazy eye” -- one eye focuses and the other wanders) Short stature relative to parents’ height Toe and finger variations: [bardetbiedl.org]

The primary characteristics are: Visual impairment caused by retinal abnormalities Obesity, typically apparent by age one Polydactyly (extra fingers or toes) Hypogonadism Renal anomalies (kidney malformations and/or malfunctions) Learning disabilities [bardetbiedl.org]

However, it is important to be sure that suspected disabilities (eg: delayed speech or reading skills) are not due to underlying visual impairment. [rarediseases.org]

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]

Complications of obesity can include type 2 diabetes, high blood pressure (hypertension), and abnormally high cholesterol levels (hypercholesterolemia). [medlineplus.gov]