OD, FAAO CASE REPORT Abstract Author Information Authors This case report describes the presentation of a patient with Bardet-Biedl syndrome. [journals.lww.com]

Although triallelism (three deleterious alleles in the same patient) has been described in some BBS families, we have to date no evidence that this is the case in the present family. [ncbi.nlm.nih.gov]

Since the age of 1 month, she presented recurrent respiratory infections and bronchiolitis, leading to the diagnosis of infantile asthma. She also presented recurrent ENT infections and benefited from adenoidectomy and myringotomy. [karger.com]

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 in [omicsonline.org]

Rumination was present at the age of two but disappeared spontaneously a few years later. This condition recurred at the age of nine, but faded out again at a later stage. [nature.com]

• Weight Gain

  Birth weight is typically normal but significant weight gain beigns within the first year. Renal disease is a major cause of morbidity and mortality. There is considerable interfamilial and intrafamilial variability in the clinical presentation. [dnatesting.uchicago.edu]

  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]

  Hyperphagia Hyperphagia due to insatiable appetite may lead to life-threatening weight gain, or may lead to stomach necrosis and rupture. Weight gain may be very rapid and occur even on a low-calorie diet. [medicalhomeportal.org]

  Bardet-Biedl is a syndrome (set of related attributes) caused by a genetic mutation and characterized by the eye condition known as cone-rod dystrophy, in addition to a variety of features that may include abnormal weight gain in the trunk (and related [familyconnect.org]

• Recurrent Respiratory Infections

  Since the age of 1 month, she presented recurrent respiratory infections and bronchiolitis, leading to the diagnosis of infantile asthma. She also presented recurrent ENT infections and benefited from adenoidectomy and myringotomy. [karger.com]

• Respiratory Insufficiency

  The neonatal period was complicated with respiratory insufficiency (the child was intubated on the first day of life and stayed on mechanical ventilation for nine days) and a generalized infection with staphylococci. [omicsonline.org]

• Tachycardia

  During hospitalization a renal insufficiency was detected, along with ionic disorders and a tachycardia of atrial origin. [omicsonline.org]

• Pointed Chin

  She exhibited dysmorphic features, including an upslanted palpebral fissure, hypertelorism, pointed chin and high arched palate as well as postaxial polydactyly of the right hand and left foot, polycystic kidneys and an atrial septum defect that was closed [nature.com]

• Sleep Disturbance

  She exhibited daily emotional outbreaks and sleep disturbances that required some sedative drugs, such as carbamazepine, cyproheptadine and risperidone, since early childhood. [nature.com]

• Dysphasia

  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]

• Clitoromegaly

  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]

• Imperforate Hymen

  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]

DIAGNOSIS AND TREATMENT The most important consideration in the workup of anovulation is to determine the patient’s goals. [glowm.com]

• Chlamydia

  When it became clear that BBS genes code for proteins implicated in cilia assembly or function, 12 comparison of sequenced genomes allowed selection of candidate genes that have orthologs in ciliated organisms (vertebrates, drosophila, C. elegans, chlamydia [doi.org]

• Giardia Lamblia

  lamblia, an organism that does not contain well-conserved orthologs to known BBS genes. 13 This combination of homozygosity mapping and comparative genomics allowed the identification of BBS3, BBS5 and BBS9. 5, 6, 8, 13 Single sibship consanguineous [doi.org]

Treatment Treatment of Bardet-Biedl Syndrome can vary depending on the features of the individuals. [evolvegene.com]

Treatment - Bardet-Biedl syndrome 10 Not supplied. Resources - Bardet-Biedl syndrome 10 Not supplied. [checkorphan.org]

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]

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

Prognosis - Bardet-Biedl syndrome 10 Not supplied. Treatment - Bardet-Biedl syndrome 10 Not supplied. Resources - Bardet-Biedl syndrome 10 Not supplied. [checkorphan.org]

Diagnosis of the condition is important for visual prognosis and low vision management. The renal disease often goes undetected until specific radiological testing is done after diagnosis of Bardet-Biedl syndrome. [journals.lww.com]

Common Features of the Disorder Eye problems (e.g. progressive vision loss) Obesity Intellectual disability Developmental delays Extra fingers or toes Kidney dysfunction Genital anomalies Male infertility Prognosis Most individuals are not affected at [evolvegene.com]

Visual prognosis is poor, and the mean age of legal blindness is 15.5 years. Birth weight is typically normal but significant weight gain beigns within the first year. Renal disease is a major cause of morbidity and mortality. [dnatesting.uchicago.edu]

Etiology The wide clinical spectrum observed in BBS is associated with significant genetic heterogeneity. To date, mutations in 12 different genes ( BBS1 to BBS12 ) have been identified as being responsible for this phenotype. [orpha.net]

Jump to navigation Jump to search Bardet-Biedl Syndrome Genetic Etiology [ edit ] Mode of inheritance: Autosomal Recessive. [en.wikibooks.org]

[…] proliferation without bile-duct proliferation Hirschsprung disease (@ 10602122 ) hypogonadism (major) renal anomalies (major) medullary-predominant cystic kidneys nephrogenic diabetes insipidus diabetes mellitus postaxial polydactyly (major) brachydactyly Etiology [humpath.com]

On the basis of electroencephalography, disorders with epileptic etiology were ruled out. Ophthalmological tests showed bilateral hyperopic astigmatism. [omicsonline.org]

The etiology is still unknown, but it is described in the literature as 35% to 48% of parental consanguinity in patients with this syndrome. [dentalnews.com]

Relevant External Links for BBS10 Genetic Association Database (GAD) BBS10 Human Genome Epidemiology (HuGE) Navigator BBS10 Atlas of Genetics and Cytogenetics in Oncology and Haematology: BBS10 No data available for Genatlas for BBS10 Gene BBS10 encodes [genecards.org]

Summary Epidemiology Its prevalence in Europe is estimated at between 1/125,000 and 1/175,000. [orpha.net]

Clinical, genetic and epidemiological studies. J Neurol Sci 1969; 9 : 479–513. 42 Farag TI, Teebi AS : High incidence of Bardet–Biedl syndrome among the Bedouin. [doi.org]

[…] frequently associated abnormalities are high blood pressure and diabetes mellitus. 1,2 Adult patients consult nephrologists due to high blood pressure, abnormal renal imaging tests or kidney failure, which is the greatest cause of morbidity and mortality. 1 EPIDEMIOLOGY [revistanefrologia.com]

Epidemiology and key points  Autosomal recessive ciliopathy.  The estimated incidence is 1:160 000 in northern European populations and 1:13 500 in some Arab populations, more common in the Bedouin population of Kuwait and on the island of Newfoundland [de.slideshare.net]

These three genes are characterized by unusually rapid evolution and are likely to perform ciliary functions specific to vertebrates that are important in the pathophysiology of the syndrome, and together they account for about one-third of the total [ncbi.nlm.nih.gov]

Pathophysiology  The detailed biochemical mechanism that leads to BBS is still unclear.  The gene products encoded by these BBS genes, called BBS proteins, are located in the basal body and cilia of the cell.  Using the round wormC. elegans as a model [de.slideshare.net]

The underlying pathophysiology involves a complex interaction between genetic factors and ciliary dysfunction. [patient.info]

The blind leading the obese: the molecular pathophysiology of a human obesity syndrome. Trans Am Clin Climatol Assoc 121:172-182. PubMed ID: 20697559 Stoetzel, C., et.al. (2006). [preventiongenetics.com]

[…] poor coordination/imbalance Mild hypertonia (especially lower limbs) Diabetes mellitus Dental crowding/ hypodontia /small dental roots; high-arched palate Cardiovascular anomalies Hepatic involvement Anosmia Auditory deficiencies Hirschsprung disease Pathophysiology [en.wikipedia.org]

Prevention - Bardet-Biedl syndrome 10 Not supplied. Diagnosis - Bardet-Biedl syndrome 10 Not supplied. Prognosis - Bardet-Biedl syndrome 10 Not supplied. Treatment - Bardet-Biedl syndrome 10 Not supplied. [checkorphan.org]

Mutations of the BBS10 gene prevent cilia from functioning properly. The condition is inherited in an autosomal recessive pattern. [evolvegene.com]

For long term storage store at -20 C in small aliquots to prevent freeze-thaw cycles. Expiry Date 6 months Supplier Images Western blot analysis of BBS10 Antibody (C-term) (ABIN651074) in NCI-H460 cell line l... [antibodies-online.com]

For long term storage store at -20 deg C in small aliquots to prevent freeze-thaw cycles. Concentration: Approximately 0.5mg/ml. Actual concentration varies with each lot. Datasheets/Manuals: Printable datasheet for anti-BBS10 antibody - OAAB02296 [avivasysbio.com]