Finally, our patient and one patient of the initial family presented with a cardiopathy, and unexpectedly not found in the more severe fetal form. [frontiersin.org]

Case presentation We present the case of a four-year-old Romanian boy who presented to our department with 'febrile seizures'. After an initial evaluation, we diagnosed our patient as having hypertension, severe anemia and end-stage renal disease. [jmedicalcasereports.biomedcentral.com]

Polydactyly-type limb anomalies - these may be the only feature present at birth and are reported in 63-81% of patients. [patient.info]

However, these mutational mechanisms are probably uncommon in BBS. 2.2 Analytical specificity (proportion of negative tests if the genotype is not present) Analytical specificity is nearly 100%. [nature.com]

Bardet-Biedl syndrome (BBS) is a rare genetic disorder present from birth that affects many parts of the body. Marshfield Clinic Health System is the only health system in the nation that provides comprehensive care for patients with BBS. [marshfieldclinic.org]

• Anemia

  After an initial evaluation, we diagnosed our patient as having hypertension, severe anemia and end-stage renal disease. [jmedicalcasereports.biomedcentral.com]

  The 35-year-old mother (I.1) reported chronic anemia and mild gastrointestinal dysfunction, while the 41-year-old father (I.2) was healthy. Both parents did not have prior marriages. [karger.com]

• Pallister-Hall Syndrome

  […] have been reported in a fetus presenting with a severe ciliopathy with short ribs polydactyly type II (SRPII or Majewski syndrome) and/or Pallister-Hall syndrome (Quelin et al., 2018). [frontiersin.org]

• Hyposmia

  MalaCards based summary : Bardet-Biedl Syndrome 19, also known as bbs19, is related to polydactyly and bardet-biedl syndrome 1, and has symptoms including hyposmia An important gene associated with Bardet-Biedl Syndrome 19 is IFT27 (Intraflagellar Transport [malacards.org]

  Minor (secondary) clinical features include speech delay, developmental delay, diabetes mellitus, dental anomalies, congenital heart disease, brachydactyly/syndactyly, ataxia/poor co-ordination, deafness and anosmia/hyposmia. [patient.info]

• Amenorrhea

  The patient was born at 39 weeks of amenorrhea with the following parameters: weight at 3210 g, height at 51 cm and head circumference at 35 cm. [frontiersin.org]

Treatment options: There is no cure for Bardet-Biedl syndrome to date, but treatment can relieve symptoms 11. Visual aids and educational programs for the visually impaired. Obesity is managed with diet, exercise, and behavioral therapies. [centogene.com]

This may delay the start of treatment and support for at-risk families. [marshfieldclinic.org]

There are no specific treatments for the characteristics associated with BBS. As vision worsens, individuals will benefit from the use of low-vision aids and orientation as well as from mobility training. [patient.info]

Standard Therapies Treatment The primary treatment goal for patients with BBS involves treating the specific symptoms affecting each individual. [rarediseases.org]

Prognosis[2] Prognosis is very poor where renal failure occurs. Prevention[4] Genetic counselling and pre-conception genotyping of family members may be worthwhile if the genetic mutation has been identified in a family member. [patient.info]

NCT00213811 Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults. [ern-eye.eu]

When major dysfunction of the renal tubule cilia is involved, renal failure is a predominant feature and a leading cause of of BBS mortality.[2] Epidemiology[3, 4] BBS is a familial condition. [patient.info]

Ardissino G, Daccò V, Testa S, Bonaudo R, Claris-Appiani A, Taioli E, Marra G, Edefonti A, Sereni F, ItalKid Project: Epidemiology of chronic renal failure in children: data from the ItalKid project. [jmedicalcasereports.biomedcentral.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]

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

Fogo A, Kon V: Pathophysiology of progressive renal failure. Pediatric Nephrology. Edited by: Avner ED, Harmon WE, Niadet P. 2004, Philadelphia, PA: Lippincott Williams & Wilkins, 1269-1285. 5 Google Scholar 2. [jmedicalcasereports.biomedcentral.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]

Prevention[4] Genetic counselling and pre-conception genotyping of family members may be worthwhile if the genetic mutation has been identified in a family member. [patient.info]

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]

Conclusions Close follow-up for renal involvement in patients with BBS and ALMS from an early age is highly recommended to prevent ESRD and also so renal replacement therapy can be started immediately. [jmedicalcasereports.biomedcentral.com]