Bardet-Biedl syndrome 18

Bardet-Biedl Syndrome (BBS) 18: A Rare Autosomal Recessive Ciliopathy

Bardet-Biedl Syndrome (BBS) 18 is a rare genetic disorder that affects multiple body systems. It is characterized by a combination of symptoms, including:

• Retinitis Pigmentosa: A progressive eye disease that leads to blindness [1][3][4]
• Obesity: Early-onset obesity is a hallmark feature of BBS 18 [2][6]
• Kidney Failure: Renal dysfunction and failure are common in individuals with BBS 18 [7][9]
• Cognitive Disability: Cognitive deficit and developmental delays are also associated with BBS 18 [8]

BBS 18 is an autosomal recessive ciliopathy, meaning that it is caused by mutations in genes responsible for the structure and function of cilia. Cilia are tiny hair-like structures on cells that play a crucial role in various cellular processes.

References:

[1] Scheidecker et al., (2014) - Characterized by retinitis pigmentosa, obesity, kidney failure, and cognitive disability [3][4]

[2] Jul 12, 2022 - A genetic condition that impacts multiple body systems [2]

[3] BBS18 is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, obesity, kidney failure, and cognitive disability [1][3][4]

[4] BBS18 is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, obesity, kidney failure, and cognitive disability [3][4]

[5] Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy. Learn more about causes, signs, symptoms and diagnosis.

[6] Feb 21, 2024 - A genetic disorder characterized by early-onset obesity, polydactyly, genital and kidney anomalies, developmental delays [6]

[7] BBS18 is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, obesity, kidney failure, and cognitive disability [7]

[8] Characterised by retinal dystrophy, renal dysfunction, post-axial polydactyly, obesity, cognitive deficit and hypogenitalism. Diagnosis is based on clinical features and genetic testing [8]

[9] Bardet–Biedl syndrome is an autosomal recessive condition that shows renal dysplasia in association with retinitis pigmentosa, polydactyly, and hypogenitalism [9]

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: Many people with BBS experience obesity, particularly around the torso and abdomen [9].
• Visual impairment: BBS can cause various eye problems, including retinal dystrophy, which leads to decreased visual acuity, night blindness, photophobia, and loss of central and color vision by late childhood/early adulthood [4].
• Extra fingers or toes (polydactyly): Some individuals with BBS are born with extra fingers or toes, a condition known as polydactyly [2, 3, 7, 8].
• Kidney disease: BBS can lead to chronic kidney disease and other problems affecting the urinary and genital organs [6, 7].
• Developmental disabilities: People with BBS may experience intellectual disability or learning disabilities [1, 7].
• Reproductive abnormalities: Males with BBS may have reduced function of the testes, while females may experience reproductive issues [3, 8].

It's essential to note that not everyone with BBS will exhibit all these symptoms, and their severity can vary significantly from person to person. If you or someone you know is suspected of having BBS, consult a medical professional for proper diagnosis and care.

References: [1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 4 [6] Context result 6 [7] Context result 7 [8] Context result 8 [9] Context result 9

Bardet-Biedl Syndrome (BBS) 18, also known as Bardet-Biedl syndrome type 18, is a rare genetic disorder that affects multiple systems in the body.

Diagnostic Tests for BBS 18:

• Genetic Testing: Genetic testing is available to confirm the diagnosis of BBS 18. This involves analyzing the genes associated with the condition to identify any mutations or variations.
• Clinical Evaluation: A thorough clinical evaluation by a geneticist or a specialist in rare diseases is essential to diagnose BBS 18. This includes assessing the presence of major and minor clinical signs, such as truncal obesity, rod cone dystrophy, genital anomalies, renal anomalies, and intellectual disability [1][2].
• Imaging Studies: Imaging studies like ultrasound, CT scans, or MRI may be ordered to evaluate any structural abnormalities in organs such as the kidneys, heart, or brain.
• Vision Testing: Vision testing is crucial to diagnose rod cone dystrophy, a common feature of BBS 18 [3].

Other Diagnostic Considerations:

• A diagnosis of BBS 18 can be made if four out of six major features are present, including rod cone dystrophy, obesity, genital anomalies, renal anomalies, and intellectual disability [4].
• Other major signs and symptoms of BBS 18 include polydactyly (extra fingers or toes), hearing loss, and sleep apnea [5].

References:

[1] Context result 2 [2] Context result 9 [3] Context result 8 [4] Context result 8 [5] Context result 9

Treatment Options for Bardet-Biedl Syndrome (BBS)

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 weight management in patients with a body mass index (BMI) > 30 kg/m² [9].

Other Treatment Approaches

• Dietary modifications: A healthy diet and regular physical activity are essential for managing obesity-related symptoms in BBS patients.
• Behavioral therapy: Behavioral therapies such as cognitive-behavioral therapy (CBT) may be helpful in addressing emotional and psychological aspects of BBS.

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 ...

Differential Diagnoses for Bardet-Biedl Syndrome

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

• Alström syndrome: This is a rare genetic disorder characterized by obesity, vision loss, and hearing impairment.
• Joubert syndrome: A genetic disorder that affects brain development and can cause problems with balance and coordination.
• Senior-Loken syndrome: A rare genetic disorder that affects the kidneys and can lead to progressive kidney disease.
• Refsum syndrome: A genetic disorder characterized by a buildup of fatty substances in the body, which can affect the nervous system and other organs.
• Familial isolated vitamin E deficiency: A rare genetic disorder caused by a lack of vitamin E, which can lead to problems with vision, hearing, and balance.

These differential diagnoses are important to consider when diagnosing BBS, as they can present with similar symptoms and features. [10][11][12]

Key Features to Consider

When considering the differential diagnosis for BBS, it's essential to look out for key features such as:

• Obesity: Early-onset obesity is a hallmark feature of BBS.
• Vision loss: Juvenile-onset pigmentary degeneration of the retina is common in BBS patients.
• Hearing impairment: Some BBS patients may experience hearing problems, particularly sensorineural hearing loss.
• Kidney disease: Progressive kidney disease can be a feature of BBS and other ciliopathies.

By considering these differential diagnoses and key features, healthcare professionals can make an accurate diagnosis and provide the best possible care for patients with BBS. [13][14]