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. [ghr.nlm.nih.gov]

Significant weight gain begins in infancy and becomes a lifelong issue. [mjdrdypu.org]

Everyone with BBS benefits from exercise and careful attention to diet to limit weight gain. Research is ongoing into understanding the basic mechanisms at the cellular level that ultimately cause BBS. [bardetbiedl.org]

gain starting in early childhood and continuing throughout one’s life Abnormal fat distribution in the body, with more fat in chest and abdomen than arms and legs (truncal obesity) Polydactyly or extra finger and/or toe Congenital heart defects Abnormalities [dovemed.com]

The patient experienced tonic muscle tension of the whole body without convulsion followed by crying. Neurological examination revealed neurodevelopmental retardation and physical sluggishness, without distinct central nervous system focal injuries. [omicsonline.org]

Haning RV et al. (1980) Virilism as a late manifestation in the Bardet-Biedl syndrome. [ ] 25. Croft JB et al. (1995) Obesity in heterozygous carriers of the gene for the Bardet-Biedl syndrome. [ ] 26. [moldiag.com]

We here present a case report of 18 year old male patient presenting in medicine department with weakness of both lower limbs, inability to walk, progressive loss of vision and polydactyly. [ijmedph.org]

The BBS10 gene is located on the long arm of the chromosome 12(12q21.2) [ 7, 9 ]. The BBS10 gene provides instructions for making a protein that is found in many types of cells. [omicsonline.org]

During the 26 th week of the pregnancy, ultrasonography showed slight dolichocephaly, an abnormal facial profile - low nasal bridge ( Figure 1 ), hypertelorism ( Figure 2 ). There was a noticeable nuchal edema, with the nuchal fold equalling 11 mm. [omicsonline.org]

Symptoms and Risks Bardet-Biedl syndrome could trigger the following symptoms: Retinal issues such as blind spots, tunnel vision or loss of vision totally Extra finger in hand or toe Obesity Learning difficulties Dental issues Difficulties in feeling [patient-help.com]

Clinical symptoms of the disorders affecting these structures are: retinal pigmentary degeneration, polydactyly, learning difficulties, and formation of kidney, liver and pancreas cysts. [omicsonline.org]

CONTENTS History Eye signs Obesity Learning difficulties ... Genetic Advice Treatment Rod-Cone dystrophy Polydactyly Obesity Learning difficulties ... [geometry.net]

Education Learning difficulties were reported for 68 (62%) BBS patients. Fifty four (50%) attended a special school because of learning difficulties, visual impairment, or both. [jmg.bmj.com]

Cognitive impairment (50-61%) - learning difficulties, speech deficits and behavioural problems, including autistic traits and psychosis, have all been described. [patient.info]

We referred the patient to a counselor for behavioral problems. There is no proven effective treatment to either prevent or improve the outcome in vision. [mjdrdypu.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 [ghr.nlm.nih.gov]

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 [bardetbiedl.org]

Typical neurological manifestations of BBS include speech and hearing deficits, learning disabilities, behavioral problems, ataxia with poor coordination, gait abnormalities, and spastic motor deficiencies of the limbs. [3] Among them, [1], [3] learning [ijoonline.com]

Patients with BBS should be premedicated before coming to the operation theater since they have visual impairment and behavioral problems; the mental status of both patients in this report was good and did not necessitate any oral premedication. [sjkdt.org]

A speech examination identified congenital developmental dysphasia caused by endogenic factors. The girl had a perceptive-expressive disorder with a speech development delay. [omicsonline.org]

The patient experienced tonic muscle tension of the whole body without convulsion followed by crying. Neurological examination revealed neurodevelopmental retardation and physical sluggishness, without distinct central nervous system focal injuries. [omicsonline.org]

During the subsequent diagnosis a 2 nd grade virilisation of genital organs was observed: clitoromegaly, an urogenital sinus, and hydrocolpos. For this reason urine steroid profile was analysed, which excluded blocks of adrenal steroidogenesis. [omicsonline.org]

It is caused by the distension of the uterine cavity and the vagina due to an accumulation of cervical gland secretions stimulated by maternal and placental estrogen in the presence of the vaginal septation or atresia or an imperforate hymen [ 6, 16 ] [omicsonline.org]