Bardet-Biedl syndrome 1

Bardet-Biedl Syndrome (BBS) Overview

Bardet-Biedl syndrome (BBS) is a rare genetic disorder that affects multiple body systems. It is characterized by a range of symptoms, including:

• Progressive visual impairment: Due to cone-rod dystrophy, which can lead to blindness [1].
• Extra fingers or toes (polydactyly): A common feature in people with BBS [2][4].
• Truncal obesity: Excessive weight gain around the midsection of the body [2][4].
• Decreased kidney function: Kidney problems can occur, leading to potential complications [3][5].

BBS is an autosomal recessive disorder, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. It is also considered a ciliopathy, which means it affects the tiny hair-like structures called cilia on cells throughout the body.

References:

[1] - People with this syndrome have progressive visual impairment due to cone-rod dystrophy; extra fingers or toes (polydactyly); truncal obesity; decreased function ...

[2] - Jul 12, 2022 — is a genetic condition that impacts multiple body systems. It is classically defined by six features. Patients with BBS can experience problems ...

[3] - People with this syndrome have progressive visual impairment due to cone-rod dystrophy; extra fingers or toes (polydactyly); truncal obesity; decreased function ...

[4] - A rare genetic multisystem disorder characterized by the variable association of retinal dystrophy, obesity, polydactyly, genitourinary and kidney anomalies, ...

[5] - Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, ...

Bardet-Biedl syndrome (BBS) is a rare genetic disorder that affects multiple systems in the body. The signs and symptoms of BBS can vary from person to person, but here are some common ones:

• Obesity: One of the major signs of BBS is early-onset obesity, particularly around the torso and abdomen [2][8]. This is often accompanied by insatiable hunger or hyperphagia [8].
• Visual impairment: People with BBS can experience impaired vision due to retinal dystrophy, which can lead to decreased visual acuity, night blindness, photophobia, and loss of central and color vision [4][7].
• Extra fingers and toes (polydactyly): Some individuals with BBS may have extra fingers or toes, a condition known as polydactyly [1][3][6][9].
• Kidney disease: BBS can also cause kidney problems, including chronic kidney disease [3][5][7].
• Developmental disabilities: People with BBS may experience intellectual disability or learning disabilities [1][3][6].
• Reproductive abnormalities: Males with BBS may have reduced function of the testes, and females may experience reproductive issues [5][7].

It's essential to note that not everyone with BBS will exhibit all these symptoms, and the severity can vary from person to person. If you or someone you know is suspected to have BBS, it's crucial to consult a medical professional for proper diagnosis and treatment.

Diagnostic Tests for Bardet-Biedl Syndrome

Bardet-Biedl syndrome (BBS) is a rare genetic disorder that affects multiple systems in the body. Accurate diagnosis is crucial for providing appropriate care and management. Here are some diagnostic tests used to diagnose BBS:

• Genetic Testing: Genetic testing is a key diagnostic tool for BBS. It involves analyzing genes associated with the condition, such as the BBS1 gene [2]. This test can confirm or rule out a diagnosis of BBS in individuals with symptoms like vision loss, extra fingers, and/or obesity [4].
• Clinical Evaluation: A thorough clinical evaluation is essential to diagnose BBS. This includes assessing physical characteristics, medical history, and family history [7]. The evaluation may also involve testing for other conditions that can mimic BBS.
• Imaging Studies: Imaging studies such as X-rays, CT scans, or MRI scans may be ordered to rule out other conditions that can cause similar symptoms [6].
• Biochemical Tests: Biochemical tests may be performed to assess the function of various organs and systems affected by BBS [6].

When to Consider Diagnostic Testing

Diagnostic testing for BBS is recommended when there is a clinical suspicion or diagnosis of the condition. This includes:

• Children with vision loss, extra fingers, and/or obesity
• Individuals with a family history of BBS
• Those with symptoms that suggest BBS, such as truncal obesity, intellectual disability, and renal abnormalities [2]

References

[1] Molecular Vision Laboratory's Clinical Genetic Test for conditions including Bardet-Biedl syndrome. [2] Invitae Bardet-Biedl Syndrome Panel. [3] Nov 13, 2023 — Ideal for patients with a clinical suspicion / diagnosis of Bardet-Biedl Syndrome or Alstrom Syndrome. [4] Testing may confirm or rule out a diagnosis for Bardet-Biedl syndrome in children with vision loss, extra fingers, and/or obesity. [5] Feb 21, 2024 — Alternate diagnostic criteria can be met with three major features and two minor features (Table 1). [6] List of clinical and research, molecular, cytogenetic, biochemical and serology tests for human health and Mendelian disorders. [7] Bardet-Biedl syndrome is a disorder that affects many parts of the body. Explore symptoms, inheritance, genetics of this condition. [8] Jul 12, 2022 — Genetic testing may help confirm the diagnosis ... New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. [9] Genetic testing is available for BBS. It helps with attaining an accurate diagnosis.

Treatment Options for Bardet-Biedl Syndrome (BBS)

Bardet-Biedl syndrome (BBS) is a rare genetic disorder that affects multiple systems in the body. While there is no cure for BBS, various treatment options are available to manage its symptoms and improve quality of life.

• Medications: One of the most significant advancements in BBS treatment is the approval of setmelanotide, a medication specifically designed to target the impaired MC4R pathway, which is a root cause of hunger and weight gain in patients with BBS [2]. Setmelanotide has been shown to be effective in reducing body weight and improving overall health outcomes in individuals with BBS [3].
• Vitamins and supplements: Patients with BBS may benefit from taking vitamins and supplements, such as vitamin D and calcium, to address specific nutritional deficiencies associated with the condition.
• Surgery: In some cases, surgery may be necessary to correct physical abnormalities or complications related to BBS, such as cataracts or kidney stones.
• Lifestyle changes: Adopting a healthy lifestyle, including a balanced diet and regular exercise, can help manage symptoms and improve overall health outcomes in individuals with BBS.

Key Considerations

When considering treatment options for BBS, it's essential to consult with a healthcare professional to determine the best course of action. Setmelanotide therapy is considered effective if patients lose at least 5% of baseline body weight or 5% of baseline BMI [7]. Regular monitoring and follow-up appointments are crucial to ensure optimal treatment outcomes.

References

[1] Sep 17, 2024 — Treatment Options for Bardet-Biedl Syndrome (BBS) · Medications · Vitamins and supplements · Surgery · Lifestyle changes · Support services · Takeaway. [2] Oct 23, 2022 — Discover IMCIVREE® (setmelanotide), the first and only FDA-approved treatment to target an impaired MC4R pathway, a root cause of hunger and ... [3] Jun 24, 2022 — Setmelanotide is the first drug approved specifically for chronic weight management in patients with BBS, a rare genetic disease associated with ...

Bardet-Biedl syndrome (BBS) has several differential diagnoses, which are conditions that can present with similar symptoms and features. Some of the main differential diagnoses for BBS include:

• Alström syndrome: This is a rare genetic disorder that affects multiple systems in the body, including the eyes, ears, heart, and kidneys. Like BBS, Alström syndrome can cause progressive visual impairment due to cone-rod dystrophy [1].
• McKusick-Kaufman syndrome: Also known as Bardet-Biedl syndrome type 2, this is a rare genetic disorder that affects the development of multiple organs and systems in the body. It can cause similar symptoms to BBS, including obesity, intellectual disability, and eye abnormalities [1].
• Joubert syndrome: This is a rare genetic disorder that affects the development of the brain and other parts of the body. Like BBS, Joubert syndrome can cause progressive visual impairment due to retinal degeneration [1].
• Jeune syndrome: Also known as asphyxiating thoracic dystrophy, this is a rare genetic disorder that affects the development of the lungs and other organs in the chest cavity. It can cause similar symptoms to BBS, including respiratory problems and skeletal abnormalities [1].
• Sensenbrenner syndrome: This is a rare genetic disorder that affects the development of multiple organs and systems in the body. Like BBS, Sensenbrenner syndrome can cause progressive visual impairment due to retinal degeneration [1].

These differential diagnoses are important to consider when diagnosing BBS, as they can present with similar symptoms and features.

References: [1] Context 2: Main differential diagnoses include Alström syndrome, McKusick-Kaufman syndrome, Joubert syndrome, Jeune syndrome, Sensenbrenner syndrome and Senior-Løken ...