Bardet-Biedl syndrome 9

Bardet-Biedl Syndrome 9 (BBS9) is a rare genetic disorder characterized by a combination of physical and developmental features.

Key Features:

• Obesity: Early-onset obesity is a hallmark feature of BBS9, often presenting in childhood or adolescence [3][5].
• Polydactyly: Extra fingers or toes are a common finding in individuals with BBS9 [1][6].
• Renal Anomalies: Kidney problems, such as cysts or other structural abnormalities, can occur in people with BBS9 [4][7].
• Retinopathy: Vision impairment due to retinal degeneration is another feature of BBS9 [3][5].
• Mental Retardation: Intellectual disability or delayed development may be present in individuals with BBS9 [1][6].

Inheritance Pattern: BBS9 is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.

References:

[1] - Context result 2 [3] - Context result 5 [4] - Context result 8 [5] - Context result 5 [6] - Context result 6 [7] - Context result 9

Bardet-Biedl Syndrome (BBS) 9, also known as BBS9, is a rare genetic disorder that affects various body systems, leading to a range of symptoms and complications. The cardinal features of BBS9 include:

• Truncal obesity: This is one of the most common signs of BBS9, where affected individuals experience excessive weight gain around the trunk area.
• Intellectual impairment: People with BBS9 often have learning difficulties or intellectual disability, which can vary in severity.
• Renal anomalies: Kidney defects are a common feature of BBS9, and can range from mild abnormalities to more severe conditions such as kidney failure.
• Polydactyly: Extra fingers or toes (polydactyly) are another characteristic sign of BBS9.
• Retinal degeneration: This condition leads to progressive visual impairment due to cone-rod dystrophy, which can cause blindness in some cases.
• Hypogenitalism: Affected males often experience reduced function of the testes (hypogonadism), leading to infertility and other reproductive issues.

It's worth noting that the symptoms of BBS9 can vary widely among affected individuals, and not everyone will exhibit all of these features. However, early diagnosis and treatment are crucial in managing the condition and preventing complications. [1][2][3][4][5][6]

References: [1] - Context 2: The cardinal features of BBS are truncal obesity, intellectual impairment, renal anomalies, polydactyly, retinal degeneration and hypogenitalism. [2] - Context 9: Signs & Symptoms. The cardinal features of BBS are truncal obesity, intellectual impairment, renal anomalies, polydactyly, retinal degeneration and hypogenitalism. [3] - Context 11: People with this syndrome have progressive visual impairment due to cone-rod dystrophy; extra fingers or toes (polydactyly); truncal obesity; decreased function of the male gonads (hypogonadism); kidney abnormalities; and learning difficulties. [4] - Context 12: Signs and symptoms of Bardet-Biedl Syndrome, Type 9 (BBS9) can vary widely ... [5] - Context 13: Bardet-Biedl syndrome (BBS) is a rare genetic disorder affecting many organ systems. [6] - Context 14: Bardet-Biedl syndrome (BBS) is a rare genetic condition that affects multiple organs and causes a wide range of symptoms, starting in infancy or early childhood.

Diagnostic Tests for Bardet-Biedl Syndrome 9

Bardet-Biedl syndrome 9 (BBS9) is a genetic disorder that affects multiple body systems, and diagnostic tests play a crucial role in its diagnosis. Here are some of the diagnostic tests used to diagnose BBS9:

• Genetic testing: Genetic testing can identify mutations in the BBS9 gene, which confirms the diagnosis of BBS9 [1]. This test is usually performed on a blood sample or skin cells.
• Targeted multi-gene panel testing: Targeted multi-gene panel testing involves analyzing multiple genes simultaneously, including the BBS9 gene. This test can identify mutations in other genes associated with BBS9 and is ideal for patients with a clinical suspicion of BBS9 [5].
• Clinical evaluation: A comprehensive clinical evaluation by a healthcare provider is essential to diagnose BBS9. The evaluation includes assessing symptoms such as obesity, genital anomalies, renal anomalies, and learning difficulties [4].

Diagnostic Criteria

The diagnosis of BBS9 can be made if the patient has four of six major features:

• Rod-cone dystrophy
• Obesity
• Genital anomalies
• Renal anomalies
• Hearing loss
• Intellectual disability

A 27-gene panel that includes assessment of non-coding variants is ideal for patients with a clinical suspicion or diagnosis of BBS9 [5].

Diagnostic Teams

A diagnostic team for Bardet-Biedl syndrome 9 may include:

• Endocrinology
• Gastroenterology
• Genetics
• Nephrology
• Neurology
• Obstetrics/Gynecology
• Ophthalmology

These specialists work together to provide a comprehensive diagnosis and treatment plan for patients with BBS9 [10].

References

[1] Clinical resource with information about Bardet-Biedl syndrome 9 and its clinical features, BBS9, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews.

[4] Feb 21, 2024 - The diagnosis can be made if the patient has four of six major features: rod cone dystrophy, obesity, genital anomalies, renal anomalies, ...

[5] Nov 13, 2023 - A 27 gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion / diagnosis of Bardet-Biedl Syndrome or ...

[10] A PCP can help you get specialist referrals, order diagnostic tests, and coordinate providers as you build a healthcare team. ... Diagnostic teams for Bardet-biedl syndrome 9 may include: Endocrinology . Gastroenterology . Genetics . Nephrology . Neurology . Obstetrics/Gynecology . Ophthalmology

Treatment Options for Bardet-Biedl Syndrome

Bardet-Biedl syndrome (BBS) is a rare genetic disorder that affects multiple systems in the body. While there is no cure for BBS, recent studies have shown promising results with drug treatment.

• Setmelanotide: This medication has been approved for use in patients with genetically confirmed BBS. It works by targeting the melanocortin 4 receptor (MC4R) and has been shown to improve hunger control and reduce obesity in individuals with BBS [1, 4].
• Multidisciplinary treatment approach: Given the complex nature of early-onset severe obesity associated with BBS, it is recommended that treatment be provided by a multidisciplinary team consisting of medical providers, nutritionists, and other healthcare professionals [6].

It's essential to note that while these treatments show promise, they are not a cure for BBS. Aggressive management of diabetes, hypertension, and other related conditions remains an important aspect of treating this disorder [2, 8].

References:

[1] Caba L (2022) - promising results in studies of subcutaneous injection treatment with setmelanotide [4] Setmelanotide was approved for hunger control in genetically confirmed Bardet-Biedl syndrome patients. [6] Dollfus H (2024) - Given the complex nature of early-onset severe obesity, treatment should ideally be provided by a multidisciplinary team with: medical providers... [8] Forsythe E (2018) - Bardet–Biedl syndrome is currently treated symptomatically focusing in particular on aggressive management of diabetes, hypertension, and...

Differential Diagnosis of Bardet-Biedl Syndrome

Bardet-Biedl syndrome (BBS) has a differential diagnosis that includes other ciliopathies and genetic obesity syndromes. Some of the conditions that can be considered in the differential diagnosis of BBS are:

• Alstrom Syndrome: This is one of the main differential diagnoses for BBS, as it also presents with early-onset retinopathy, but with earlier nystagmus and other distinct features [7].
• Prader-Willi Syndrome: Another genetic obesity syndrome that can be considered in the differential diagnosis of BBS, characterized by severe obesity, short stature, and intellectual disability [6].

It's essential to consider these conditions when diagnosing BBS, as they share some similar symptoms. However, each condition has distinct features that can help differentiate it from BBS.

References: [7] Dollfus H (2024) Alström Syndrome patients also present with early-onset retinopathy, but with earlier nystagmus and other distinct features. [6] Shoemaker A (2024) The differential diagnosis for BBS includes other ciliopathies, such as Alstrom syndrome, and other genetic obesity syndromes, such as Prader-Willi syndrome.