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]

These may be present at birth or may become noticeable as the child grows. For diagnosis, four primary symptoms should be present, or three primary plus two secondary symptoms. There is no specific test to detect the presence of BBS. [uhb.nhs.uk]

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

Genotypic differences between WABB patients with an identified mutation and those presenting with a partial form phenotype will also be assessed. [bmcpediatr.biomedcentral.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]

• Eruptions

  Dental abnormalities in 33% of patients consisted of a pronounced gap between the upper front teeth, crowding, late eruption, and selective brown enamel discoloration. [jamanetwork.com]

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]

There are as yet no specific treatments available, little or no access to well characterized cohorts of patients, and limited information on the natural history of the diseases. [hal.inserm.fr]

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]

Pharmaceutical companies may develop a disease specific registry to determine natural history and monitor outcomes of novel treatments. [bmcpediatr.biomedcentral.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]

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]

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]

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]

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]

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]

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]

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]