Bardet-Biedl syndrome 11

Bardet-Biedl syndrome-11 (BBS11) is a genetic disorder that affects multiple body systems. It is characterized by a combination of physical and developmental features, including:

• Obesity: BBS11 is often associated with early-onset obesity, which can be severe [1].
• Pigmentary retinopathy: This condition involves the degeneration of the retina's pigment layer, leading to progressive vision loss [2][4].
• Polydactyly: Individuals with BBS11 may have extra fingers or toes [3][5].
• Hypogenitalism: This refers to underdeveloped genitalia, which can be a feature of BBS11 [6].

BBS11 is an autosomal recessive disorder, meaning that it is inherited in a recessive pattern and affects both males and females. It is often diagnosed in childhood or adolescence, and its symptoms can vary in severity from person to person.

It's worth noting that BBS11 is one of the many forms of Bardet-Biedl syndrome (BBS), which is a genetic disorder characterized by a range of physical and developmental features [7].

Common Signs and Symptoms of Bardet-Biedl Syndrome

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 most prominent symptoms of BBS is obesity, particularly around the abdomen [1]. This is often accompanied by hyperphagia (increased hunger) [2].
• Visual Impairment: Rod-cone dystrophy can lead to decreased visual acuity, night blindness, photophobia, and loss of central and color vision by late childhood/early adulthood [3].
• Polydactyly: Extra fingers or toes (polydactyly) are a common feature of BBS [4][5].
• Intellectual Disability/Learning Disabilities: Many individuals with BBS experience intellectual disability or learning disabilities [6].
• Kidney Defects and Learning Disabilities: Some people with BBS may also have kidney defects, which can lead to chronic kidney disease [7].
• Hypogonadism: Reduced function of the testes in boys is another symptom associated with BBS [8].

It's essential to note that not everyone with BBS will exhibit all these symptoms, and their severity can vary from person to person.

References: [1] Context 1 [2] Context 2 [3] Context 3 [4] Context 4 [5] Context 5 [6] Context 6 [7] Context 7 [8] Context 8

Diagnostic Tests for Bardet-Biedl Syndrome 11

Bardet-Biedl Syndrome (BBS) 11 is a genetic disorder that can be diagnosed through various clinical and molecular tests.

• Clinical Evaluation: The diagnosis of BBS 11 is based on the presence of four major clinical signs or three major and two minor clinical signs. A thorough clinical evaluation by a qualified healthcare professional is essential to identify these symptoms.
  • Major clinical signs: obesity, polydactyly, pigmentary retinopathy, hypogonadism
  • Minor clinical signs: intellectual disability, behavioral problems, sleep apnea, etc.
• Genetic Testing: Genetic testing is a crucial diagnostic tool for BBS 11. It involves analyzing the genes associated with the condition to confirm the diagnosis.
  • Sequence analysis of the entire coding region and bi-directional Sanger sequencing can be used to identify mutations in the BBS1 gene.
  • A 27-gene panel that includes assessment of non-coding variants is ideal for patients with a clinical suspicion or diagnosis of Bardet-Biedl Syndrome, including BBS11 [5].
• Whole-Exome Sequencing: Whole-exome sequencing has become a first-line diagnostic test for patients with multiple congenital anomalies, including those suspected to have BBS 11 [8].

Laboratory Tests

In addition to genetic testing, various laboratory tests can be performed to support the diagnosis of BBS 11.

• Liver function tests
• Complete blood count
• Electrolytes, creatine, urea, lipid panel, and blood glucose (HbA1c)
• Gonadotropins and sex hormones (if in the age of puberty)

These laboratory tests can help identify potential complications associated with BBS 11.

References:

[3] by N Van Roy · 2023 · Cited by 3 — Diagnosis is based on Beales' modified diagnostic criteria: the presence of four primary features or three primary plus two secondary features is required. [5] Nov 13, 2023 — A 27 gene panel that includes assessment of non-coding variants is ideal for patients with a clinical suspicion or diagnosis of Bardet-Biedl Syndrome, including BBS11. [8] Whole-exome sequencing has become a first-line diagnostic test for patients with multiple congenital anomalies, including those suspected to have BBS 11.

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.

• Setmelanotide: This is the first drug approved specifically for chronic weight management in patients with BBS [1]. Setmelanotide works by activating the melanocortin 4 receptor, which helps regulate hunger and metabolism. It has been shown to be effective in reducing obesity and improving overall health in individuals with BBS [3].
• Multidisciplinary Team Approach: Given the complex nature of early-onset severe obesity associated with BBS, treatment should ideally be provided by a multidisciplinary team consisting of medical providers, nutritionists, psychologists, and other specialists [9]. This approach can help address various aspects of the condition, including weight management, mental health, and overall well-being.
• Future Therapies: Researchers are exploring new therapeutic approaches for BBS, such as gene replacement therapy, readthrough therapy, exon skipping therapy, and genome editing [7]. These emerging treatments hold promise for improving outcomes in individuals with BBS.

While setmelanotide is a significant advancement in the treatment of BBS, it's essential to note that each individual's experience may vary. A comprehensive treatment plan, tailored to the specific needs of the patient, can help optimize results and improve quality of life.

References: [1] Jun 24, 2022 — Setmelanotide is the first drug approved specifically for chronic weight management in patients with BBS, a rare genetic disease associated with ... [3] by S Ganawa · 2022 · Cited by 9 — Future therapies for BBS could include gene replacement therapy, readthrough therapy, exon skipping therapy and genome editing. [7] by A Shoemaker · 2024 — While there is no cure for BBS, setmelanotide is a new pharmacotherapy approved for treatment of obesity in BBS. The differential diagnosis for BBS includes ... [9] by H Dollfus · 2024 · Cited by 3 — Given the complex nature of early-onset severe obesity, treatment should ideally be provided by a multidisciplinary team with: medical providers ...

Differential Diagnosis of Bardet-Biedl Syndrome

Bardet-Biedl syndrome (BBS) is a rare genetic disorder that can be challenging to diagnose due to its overlapping symptoms with other conditions. The differential diagnosis for BBS includes several ciliopathies and genetic obesity syndromes.

• Alstrom syndrome: This condition shares similar features with BBS, including retinal degeneration, obesity, and renal abnormalities [3][6].
• Prader-Willi syndrome: Characterized by severe obesity, short stature, and intellectual disability, Prader-Willi syndrome can be a differential diagnosis for BBS, particularly in cases of early-onset obesity [3][6].
• Usher syndrome: As the second most common cause of syndromic retinal degeneration, Usher syndrome should be considered in the differential diagnosis of BBS, especially when sensorineural hearing loss is present [10].

Key Features to Consider

When differentiating BBS from other conditions, consider the following key features:

• Retinal degeneration: Both Alstrom and Usher syndromes share similar retinal degeneration characteristics with BBS.
• Obesity: Prader-Willi syndrome and BBS both present with severe obesity as a primary feature.
• Renal abnormalities: Alstrom syndrome, like BBS, can involve renal anomalies.

Clinical and Molecular Overlap

There is significant clinical and molecular overlap between Bardet-Biedl syndrome and other ciliopathies. A comprehensive diagnostic evaluation, including genetic testing and imaging studies, is essential to accurately diagnose BBS and rule out other conditions.

References:

[3] by H Dollfus · 2024 · Cited by 3 — [6] by A Shoemaker · 2024 — [10] Differential Diagnosis of Bardet-Biedl Syndrome.