Bardet-Biedl syndrome 21

Bardet-Biedl Syndrome 21 (BBS21) Overview

Bardet-Biedl Syndrome 21, also known as BBS21, is a rare genetic disorder that affects multiple body systems. It is characterized by a distinct set of symptoms and features.

Key Features of BBS21:

• Obesity: One of the primary characteristics of BBS21 is early-onset obesity, which can lead to various health complications.
• Postaxial Polydactyly: This condition is marked by an extra finger or toe on the postaxial side (the side opposite the thumb).
• Retinal Degeneration: Individuals with BBS21 often experience progressive retinal degeneration, leading to vision loss and potentially blindness.
• Mild Cognitive Impairment: Some people with BBS21 may exhibit mild cognitive impairment, affecting their memory, learning, and problem-solving abilities.

Genetic Basis of BBS21

BBS21 is an autosomal recessive ciliopathy, meaning that it is caused by mutations in genes responsible for the proper functioning of cilia (tiny hair-like structures) in cells. These genetic mutations disrupt normal cellular processes, leading to the characteristic symptoms and features of BBS21.

References:

• [1] Heon et al.
• [4] Mar 27, 2017
• [5] Title: Bardet-biedl syndrome 21 Definition: BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration...
• [8] BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et.

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 distinctive features of BBS is obesity, particularly around the abdomen [1]. This is due to an impairment in the MC4R pathway signaling, which regulates hunger [3].
• Visual Impairment: People with BBS often experience visual problems, including night blindness, decreased visual acuity, and loss of central and color vision by late childhood/early adolescence [2], [4].
• Additional Fingers or Toes (Polydactyly): Many individuals with BBS have extra fingers or toes, which can be a noticeable sign of the condition [5], [6].
• Intellectual Disability: Some people with BBS may experience intellectual disability, although this is not universal [7].
• Reduced Function of the Testes in Boys: In boys, BBS can lead to reduced function of the testes, which can affect fertility and development [5], [6].
• Kidney Defects: Kidney defects are also a common feature of BBS, which can increase the risk of kidney problems later in life [5].
• Learning Disabilities: Some individuals with BBS may experience learning disabilities or difficulties with coordination and balance [8].

It's essential to note that not everyone with BBS will exhibit all these symptoms, and the severity of each symptom can vary significantly from person to person. If you suspect someone has BBS, it's crucial to consult a medical professional for an accurate diagnosis and proper care.

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

Diagnostic Tests for Bardet-Biedl Syndrome 21

Bardet-Biedl Syndrome (BBS) 21, also known as Bardet-Biedl syndrome type 21, is a genetic disorder that affects multiple body systems. Diagnostic tests are essential to confirm the presence of this condition.

• Genetic Testing: Genetic testing is the primary diagnostic tool for BBS 21. It involves analyzing genes associated with the condition, such as [2]. The Invitae Bardet-Biedl Syndrome Panel analyzes genes that are associated with BBS, which is characterized by truncal obesity, among other features [2].
• Clinical Features: Clinical genetic tests, like those offered by Molecular Vision Laboratory, can also be used to diagnose BBS 21. These tests analyze conditions such as Bardet-Biedl syndrome; Bardet-Biedl syndrome 10; Bardet-Biedl syndrome 11; ... [1]
• Whole-Exome Sequencing: Whole-exome sequencing is now a first-line diagnostic test for patients with multiple congenital anomalies, rather than targeted sequencing. This method can help identify genetic mutations associated with BBS 21 [5].
• Clinical Resource: A clinical resource provides information about Bardet-biedl syndrome 21 and its clinical features, CFAP418, available genetic tests from US and labs around the world [3].

Diagnostic Methods

The following diagnostic methods are used to confirm the presence of BBS 21:

• Analysis methods for genetic testing
• Clinical genetic tests offered by Molecular Vision Laboratory
• Whole-exome sequencing
• Clinical resource with information about Bardet-biedl syndrome 21 and its clinical features

References

[1] Molecular Vision Laboratory. (n.d.). Clinical Genetic Test offered by Molecular Vision Laboratory for conditions (38): Bardet-Biedl syndrome; Bardet-Biedl syndrome 10; Bardet-Biedl syndrome 11; ...

[2] Invitae. (n.d.). The Invitae Bardet-Biedl Syndrome Panel analyzes genes that are associated with BBS, which is characterized by truncal obesity, among other features.

[3] Clinical resource with information about Bardet-biedl syndrome 21 and its clinical features, CFAP418, available genetic tests from US and labs around the world [3].

[5] H Dollfus. (2024). Genetic testing has progressively improved in the last years prompting for a revision of the diagnostic criteria taking into account clinical ...

Note: The above information is based on the search results provided in the context.

Treatment Options for Bardet-Biedl Syndrome

Bardet-Biedl syndrome (BBS) is a rare genetic disorder associated with severe obesity, among other symptoms. While there is no cure for BBS, various treatment options are available to manage its symptoms and improve quality of life.

• Pharmacotherapy: Medications such as orlistat, lorcaserin, phentermine-topiramate, naltrexone/bupropion, and setmelanotide (Imcivree) have been approved for the treatment of obesity in individuals with BBS [8]. These medications work by reducing food intake, increasing feelings of fullness, or affecting hunger hormones.
• Setmelanotide (Imcivree): This is a daily injection medication specifically approved for chronic weight management in patients with BBS. It helps promote weight loss by reducing food intake and increasing satiety [4]. Imcivree has been shown to be effective in reducing body mass index (BMI) and improving overall health outcomes.
• Other treatments: While not specific to BBS, other treatments such as lifestyle modifications (e.g., diet, exercise), behavioral therapy, and surgical interventions may also be considered on a case-by-case basis [9].

It's essential to note that each individual with BBS is unique, and treatment plans should be tailored to their specific needs and health status. Consultation with a healthcare professional is crucial for determining the most effective treatment approach.

References: [4] - The medication setmelanotide (Imcivree) helps promote weight loss by reducing food intake and increasing satiety. [8] - Orlistat, lorcaserin, phentermine-topiramate, naltrexone/bupropion, and setmelanotide are medications approved for the treatment of obesity in individuals with BBS. [9] - Lifestyle modifications, behavioral therapy, and surgical interventions may be considered as part of a comprehensive treatment plan.

Differential Diagnoses for Bardet-Biedl Syndrome (BBS)

Bardet-Biedl syndrome (BBS) is a rare genetic disorder that can be challenging to diagnose. Several conditions share similar features with BBS, making differential diagnosis essential.

• Alström Syndrome: This condition also presents with obesity, retinal degeneration, and renal dysfunction, among other symptoms [1][2]. Alström syndrome is caused by mutations in the ALMS1 gene.
• McKusick-Kaufman Syndrome: Another genetic disorder that can be confused with BBS due to shared features like obesity, polydactyly, and genital abnormalities [2].
• Joubert Syndrome: A rare genetic disorder characterized by brain malformations, retinal degeneration, and renal dysfunction, which can be similar to BBS [1][3].
• Jeune Syndrome: Also known as short-limbed dwarfism, this condition presents with skeletal abnormalities, obesity, and respiratory problems, which can be confused with BBS [2].
• Sensenbrenner Syndrome: A rare genetic disorder that shares features like obesity, polydactyly, and genital abnormalities with BBS [1][3].
• Senior-Løken Syndrome: Another rare genetic disorder characterized by retinal degeneration, renal dysfunction, and obesity, which can be similar to BBS [2].

These differential diagnoses are essential for accurate diagnosis and treatment of BBS. A thorough medical evaluation, including genetic testing, is necessary to confirm the presence of BBS.

References:

[1] Context 2 [2] Context 4, 6 [3] Context 7