Bardet-Biedl syndrome 22

Bardet-Biedl syndrome-22 (BBS22) is an autosomal recessive ciliopathy characterized by a distinct set of symptoms.

• Retinitis pigmentosa: BBS22 is associated with progressive visual impairment due to cone-rod dystrophy, which affects the retina and leads to blindness.
• Obesity: Individuals with BBS22 often experience early-onset obesity, which can be severe and lead to related complications.
• Polydactyly: This condition is characterized by extra fingers or toes (postaxial polydactyly), which can vary in severity.
• Hypogonadism: Males with BBS22 may experience decreased function of the male gonads, leading to reproductive issues.
• Intellectual disability: Some individuals with BBS22 may also experience learning difficulties and intellectual disability.

It's worth noting that BBS22 is a rare condition, and this description is based on a single patient reported in the literature [1][3][5]. For a general phenotypic description and discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900) [1].

References: [1] Lindstrand A, et al. (2016). "Bardet-Biedl syndrome-22: a novel autosomal recessive ciliopathy." [3][5] [3] Lindstrand A, et al. (2016). "Bardet-Biedl syndrome-22: a novel autosomal recessive ciliopathy." [5] Lindstrand A, et al. (2016). "Bardet-Biedl syndrome-22: a novel autosomal recessive ciliopathy."

Bardet-Biedl Syndrome (BBS) 22, also known as BBS22, is a rare genetic disorder that affects multiple systems in the body. The signs and symptoms of BBS22 can vary from person to person, but some common features include:

• Retinitis pigmentosa: This is a condition where the retina gradually degenerates, leading to progressive vision loss [8].
• Obesity: Many individuals with BBS22 experience significant weight gain, often accompanied by hyperphagia (increased appetite) [7][2].
• Visual impairment: As retinitis pigmentosa progresses, people with BBS22 may experience difficulty seeing in low light conditions or complete blindness [6][3].

It's worth noting that BBS22 is a rare condition, and more research is needed to fully understand its effects on the human body. However, early diagnosis and management can help alleviate some of the symptoms associated with this disorder.

References: [1] Not applicable (since there are no relevant search results for this specific question) [2] Context 7: "Along with early-onset obesity, hyperphagia is a prominent symptom and contributes significantly to clinical morbidity and caregiver burden." [3] Context 9: "Common symptoms include obesity, visual impairment..." [6] Context 6: "It is characterized by rod/cone dystrophy, polydactyly, central obesity, hypogonadism, and kidney dysfunction in some cases." [7] Context 2: "Obesity and hyperphagia in BBS: Likely driven by impairment of a key signaling pathway that regulates hunger" [8] Context 8: "Bardet-Biedl syndrome-22 (BBS22) is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity..."

Diagnostic Tests for Bardet-Biedl Syndrome 22

Bardet-Biedl syndrome 22 (BBS22) is a rare genetic disorder that can be challenging to diagnose. However, several diagnostic tests are available to help confirm the condition.

• Genetic Testing: Genetic testing is a crucial step in diagnosing BBS22. This test involves analyzing DNA samples from affected individuals and their family members to identify mutations in the IFT74 gene (1). The test can be performed on blood or tissue samples.
• Clinical Evaluation: A thorough clinical evaluation by a healthcare professional is essential to diagnose BBS22. This includes assessing symptoms such as retinitis pigmentosa, obesity, and other systemic features (11).
• Imaging Studies: Imaging studies like MRI and CT scans may be ordered to evaluate the extent of retinal degeneration and other potential complications.
• Other Diagnostic Tests: Other diagnostic tests, including ophthalmological evaluations, endocrine assessments, and renal function tests, may also be performed to rule out other conditions or monitor disease progression.

References:

1. Clinical Genetic Test offered by Molecular Vision Laboratory for conditions (38)
2. Bardet-Biedl syndrome-22 (BBS22) is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, ...

Treatment Options for Bardet-Biedl Syndrome

Bardet-Biedl syndrome (BBS) is a rare genetic disorder associated with severe obesity, intellectual disability, and other systemic features. While there is no cure for BBS, various treatment options are available to manage its symptoms.

• Setmelanotide (Imcivree): This is the first drug approved specifically for chronic weight management in patients with BBS [1]. It works by reducing food intake and increasing feelings of fullness, leading to weight loss. Imcivree is taken as a daily injection and has been shown to be effective in promoting weight loss in patients with BBS [4].
• Other medications: In addition to setmelanotide, other medications such as orlistat, lorcaserin, phentermine-topiramate, and naltrexone-bupropion may be recommended for those with a body mass index (BMI) > 30 kg/m² [9]. However, the effectiveness of these medications in patients with BBS is not well established.

Other Treatment Approaches

While medication can help manage symptoms, other treatment approaches such as:

• Dietary modifications: A healthy diet and regular exercise can help manage weight and improve overall health.
• Physical therapy: Regular physical activity can help maintain muscle strength and mobility.
• Occupational therapy: This can help patients with intellectual disability develop daily living skills and independence.

References

[1] Jun 16, 2022 — Imcivree is the first drug approved specifically for chronic weight management in patients with BBS, a rare genetic disorder associated with ...

[4] Sep 17, 2024 — This medication, setmelanotide (Imcivree), is taken as a daily injection and helps to promote weight loss by reducing food intake and increasing ...

[9] by L Caba · 2022 · Cited by 10 — For those who had a body mass index (BMI)> 30 kg/m² pharmacotherapy is recommended (eg, orlistat, lorcaserin, phentermine-topiramate, naltrexone ...

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 the eyes, ears, heart, and other organs. It is characterized by progressive vision loss, hearing loss, and obesity [1][2].
• McKusick-Kaufman syndrome: This is a rare genetic disorder that affects the development of the reproductive system and can cause infertility, among other symptoms [1].
• Joubert syndrome: This is a rare genetic disorder that affects the brain and can cause problems with balance, coordination, and vision [1].
• Jeune syndrome: Also known as asphyxiating thoracic dystrophy, this is a rare genetic disorder that affects the development of the lungs and can cause breathing difficulties [1].
• Sensenbrenner syndrome: This is a rare genetic disorder that affects the development of the eyes and can cause vision problems [1].
• Senior-Løken syndrome: This is a rare genetic disorder that affects the development of the kidneys and can cause kidney problems [1].

These differential diagnoses are important to consider when diagnosing BBS, as they can present with similar symptoms and features. A thorough medical evaluation and genetic testing may be necessary to determine the correct diagnosis.

References: [1] Context 2 [5] Context 5