Symptoma

Bardet-Biedl Syndrome Type 13

Bardet Biedl Syndrome 13

An asymptomatic bifid epiglottis is nearly pathognomonic, however, some patients present with more severe posterior laryngeal clefts leading to potentially fatal respiratory insufficiency. [orpha.net]

Gynecomastia was present in 31 males, and cryptorchidism was present in 2. Mean menarchal age was 12.6 years (n 36). [jamanetwork.com]

  • Constipation

    General GI disturbances in 57 patients (35%) included frequent upper GI pain, chronic diarrhea, and constipation; gastroesophageal reflux was diagnosed, based on findings from either upper GI series or endoscopies, in 35 patients. [jamanetwork.com]

  • Hearing Impairment

    Mild-to-profound bilateral sensorineural, predominantly high-frequency, hearing impairment evolved throughout childhood (89%; age range, 2-21 years; mean age at onset, 5 years). [jamanetwork.com]

  • Hypercholesterolemia

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

Treatments for the Two Conditions Treatment of BBS is focused on treating the symptoms of the disorder, such as vision correction or kidney transplants. [verywellhealth.com]

Management and treatment Treatment is symptomatic. Medical imaging should include MRI to assess the hypothalamic hamartoma, X-rays of hands and feet and a full-skeletal survey as well as renal ultrasound. [orpha.net]

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]

These findings will aid physicians in making an early and accurate diagnosis and will help effect appropriate monitoring and treatment. [jamanetwork.com]

Prognosis Prognosis should be assumed to be excellent until proven otherwise. However, in its most severe forms, panhypopituitarism and severe airway malformations can be lethal; imperforate anus may also be lethal if not recognized. [orpha.net]

Prognosis For those with Laurence-Moon syndrome, life expectancy is usually shorter than other people. The most common cause of death is linked to renal or kidney issues. [verywellhealth.com]

These patients have a poor clinical prognosis; 11 of 33 have died (age range, 14-48 years). There was mild to severe elevation in liver transaminase levels as early as age 4 years in 89 (92%) of 97 patients tested. [jamanetwork.com]

Etiology PHS is due to mutations of the GLI3 gene (7p13) that encodes a transcription factor activated by the sonic hedgehog pathway. Mutations lead to alterations in gene expression during development. [orpha.net]

Summary Epidemiology Approximately 100 patients have been reported to date. [orpha.net]

Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Am J Med Genet A. 2005;132A(4):352–360. doi:10.1002/ajmg.a.30406 Forsythe E, Kenny J, Bacchelli C, Beales PL. [verywellhealth.com]

Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. Indian J Ophthalmol. 2016;64(9):620–627. doi:10.4103/0301-4738.194328 Shrestha S, Chaudhary N. A rare case of obesity. Can it be Bardet-Biedl Syndrome?. [verywellhealth.com]

Goldstein JFialkow P The Alström syndrome: report of three cases with further delineation of the clinical, pathophysiological, and genetic aspects of the disorder. Medicine (Baltimore) 1973;5253- 71PubMedGoogle ScholarCrossref [jamanetwork.com]

anonymous) patient information to study conditions and identify targets for treatments, preventions and cures. [fightingblindness.org]

Paisey RBCarey CMParkinson MJParkinson CCole MD Alström syndrome: the case for secondary prevention [abstract]. Diabetes Res Clin Pract 2000;50 ((suppl 1)) S202Google ScholarCrossref 5. [jamanetwork.com]