Meester-Loeys syndrome

Meester-Loeys syndrome (MRLS) is an X-linked disorder characterized by early-onset aortic aneurysm and dissection, as well as other systemic features.

Key Features:

• Early-onset aortic aneurysm and dissection [1, 5, 9, 10]
• Hypertelorism (increased distance between the eyes) [3, 4, 8, 10]
• Pectus deformity (sunken or protruding chest) [3, 4, 8, 10]
• Joint hypermobility and contractures [3, 4, 8, 10]
• Mild skeletal dysplasia [1, 5, 9, 10]

Other Relevant Information:

Meester-Loeys syndrome is caused by loss-of-function mutations in the BGN gene [4, 11]. This syndrome was first described in five families in 2017 and has been associated with cardiovascular complications, including thoracic aortic aneurysm (TAA) [4].

Comparison to Other Syndromes:

Meester-Loeys syndrome shares clinical overlap with Marfan syndrome and Loeys-Dietz syndrome [1]. However, it is essential to note that Meester-Loeys syndrome has distinct features, such as early-onset aortic aneurysm and dissection.

References:

[1] Meester et al. (2017) - First description of Meester-Loeys syndrome in five families. [3] Search For A Disorder - Clinical Characteristics of Meester-Loeys Syndrome. [4] Meester et al. (2017) - Description of Meester-Loeys syndrome and its association with cardiovascular complications. [5] Uniprot Description - An X-linked, thoracic aortic aneurysm syndrome characterized by early-onset, severe aortic aneurysm and dissection. [8] Meester-Loeys syndrome. The information provided on this page is for informational purposes only. [9] Meester-Loeys syndrome (MRLS) is an X-linked disorder characterized by early-onset severe aortic aneurysm and dissection. [10] Meester-Loeys syndrome (MRLS) is an X-linked disorder characterized by early-onset aortic aneurysm and dissection. Other recurrent findings include hypertelorism, pectus deformity, joint hypermobility, contractures, and mild skeletal dysplasia (Meester et al., 2017). [11] Introduction. Meester-Loeys syndrome (MRLS, MIM #300989) is an X-linked thoracic aortic aneurysm and dissection (TAAD) syndrome caused by loss-of-function variants in the biglycan gene (BGN).

Meester-Loeys syndrome (MRLS) is an X-linked disorder characterized by early-onset aortic aneurysm and dissection, among other symptoms.

Common Features:

• Early-onset aortic aneurysm and dissection [1]
• Hypertelorism (increased distance between the eyes) [7]
• Pectus carinatum (a condition where the breastbone protrudes outward) [1]
• Malar hypoplasia (underdeveloped cheekbones) [7]
• Downslanting palpebral fissures (eyes that slant downward) [7]

Other Recurrent Findings:

• Ventricular dilation (enlargement of the heart's chambers)
• Large head circumference
• Excessive hair growth
• Gum enlargement
• Lower collagen content

Skeletal and Craniofacial Features:

• Skeletal malformations, including craniosynostosis (premature fusion of the bones in the skull) [9]
• Scoliosis (curvature of the spine)
• Kyphosis (abnormal curvature of the upper back)
• Facial abnormalities
• Weakened or missing eye muscles (strabismus)

Cardiovascular and Neurological Systems:

• Cardiovascular system affected, with aortic aneurysms and dissections being common [2]
• Neurological system affected, with malformation or instability of the spinal bones in the neck being a common feature [3]

It's essential to note that Meester-Loeys syndrome is a rare genetic disorder, and these symptoms may not be present in every individual. If you suspect someone has MRLS, it's crucial to consult with a medical professional for an accurate diagnosis and treatment plan.

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

Meester-Loeys syndrome (MRLS) is a rare genetic disorder that can be diagnosed through various diagnostic tests.

Genetic Testing

Genetic testing is often used to diagnose MRLS and involves analyzing the BGN gene, which is responsible for the condition. This test can detect single nucleotide and copy number variants in the gene associated with MRLS [1, 5]. Next-generation sequencing (NGS) or massively parallel sequencing (MPS) are commonly used methods for this type of testing [3, 6].

Clinical Molecular Genetics Test

A clinical molecular genetics test is available for Meester-Loeys syndrome and involves sequence analysis of the entire coding region using NGS/MPS. This test can be ordered through Intergen Genetic Diagnosis and Research Centre [13].

Diagnostic Features

The diagnosis of MRLS is established by identifying pathogenic loss-of-function variants in the BGN gene, which encodes biglycan [8]. The condition is characterized by early-onset aortic aneurysm and dissection, as well as other features such as hypertelorism, pectus deformity, joint hypermobility, contractures, and mild skeletal dysplasia [1, 2, 15].

Clinical Features

Meester-Loeys syndrome is associated with multiple organ systems, including the cardiovascular, skeletal, craniofacial, cutaneous, and neurological systems. The condition shows clear clinical overlap with Marfan syndrome and Loeys-Dietz syndrome [10]. Diagnostic features of MRLS include early-onset aortic root dilatation and dissection, hypertelorism, joint hypermobility, contractures, bifid uvula, and pectus deformities [11].

Abnormality of Systems

Meester-Loeys syndrome is associated with abnormalities in several systems, including:

• Abnormality of the nervous system (HP:0000707)
• Abnormality of head or neck (HP:0000152)
• Abnormality of the eye (HP:0000478)
• Abnormality of the cardiovascular system (HP:0001626)
• Abnormality of the respiratory system (HP:0002086)
• Abnormality of the musculoskeletal system (HP:0033127)
• Abnormality of limbs (HP:0040064) [12]

In summary, Meester-Loeys syndrome can be diagnosed through genetic testing, which involves analyzing the BGN gene. Clinical molecular genetics tests are also available for this condition. The diagnosis is established by identifying pathogenic loss-of-function variants in the BGN gene and is associated with multiple organ systems.

Meester-Loeys syndrome (MRLS) is an X-linked disorder characterized by early-onset severe aortic aneurysm and dissection, among other complications. While there is no specific treatment for the overall condition, various medications can help manage its symptoms.

Blood Pressure Management

People with Loeys-Dietz syndrome may take medication to lower their blood pressure, which can also be beneficial for those with MRLS [3]. Angiotensin receptor blockers (ARBs), such as Losartan, are commonly prescribed to control high blood pressure in these individuals.

Other Medications

While there is no specific treatment for Meester-Loeys syndrome, individual deformities and complications can be surgically repaired. In some cases, medications may be used to manage related conditions, such as pain or hypertension [15].

However, it's essential to note that the primary focus of treatment for MRLS is on managing its cardiovascular aspects, particularly aortic aneurysm and dissection.

Orphan Drugs

As Meester-Loeys syndrome is a rare disease, orphan drugs specifically developed for its treatment may become available in the future. Orphan drugs are designed to address unmet medical needs for rare conditions [9].

References

• MRLS is caused by loss-of-function mutations in the BGN gene (Meester et al., 2017) [4].
• The syndrome was first described in five probands, all of whom suffered from cardiovascular complications, including thoracic aortic aneurysm and mild valve insufficiency [4].

Please consult with a healthcare professional for medical advice on managing Meester-Loeys syndrome.

Meester-Loeys syndrome (MRLS) is a rare genetic disorder that can be challenging to diagnose due to its overlapping clinical features with other conditions. Based on the search results, here are some differential diagnoses for MRLS:

• Marfan syndrome: This condition shares many similar clinical features with MRLS, including early-onset aortic root dilatation and dissection, hypertelorism, joint hypermobility, and skeletal dysplasia [2][3]. In fact, distinguishing manifestations of LDS include hypertelorism (widely-spaced eyes), arterial aneurysms that are widespread (found in the aorta and other arteries) [5].
• Loeys-Dietz syndrome: This is another autosomal dominant connective tissue disorder that has many features similar to Marfan syndrome, including aortic root dilatation and dissection, hypertelorism, and skeletal dysplasia [6].
• Ehlers–Danlos syndrome: This condition can also present with joint hypermobility, contractures, and mild skeletal dysplasia, which are common findings in MRLS patients [10].

To confirm the diagnosis of MRLS, genetic analysis is often performed to identify loss-of-function variants in the BGN gene encoding biglycan [1][3][8]. A combination of radiological and clinical findings, family history, and genetic testing can also aid in the diagnosis [7].

References:

[1] Meester et al. (2024) - Meester-Loeys syndrome is an X-linked thoracic aortic aneurysm and dissection (TAAD) syndrome caused by loss-of-function variants in the BGN gene.

[2] Meester et al. (2024) - Clinical features significantly overlap Marfan syndrome & LDS, incl early-onset aortic root dilatation & dissection, hypertelorism, joint hypermobility, ...

[3] Meester et al. (2024) - Meester-Loeys syndrome (MRLS, MIM #300989) is an X-linked thoracic aortic aneurysm and dissection (TAAD) syndrome caused by loss-of-function variants in the BGN gene.

[5] - Distinguishing manifestations of LDS include hypertelorism (widely-spaced eyes), arterial aneurysms that are widespread (found in the aorta and other arteries).

[6] Mar 9, 2023 - Loeys-Dietz syndrome is an autosomal dominant connective tissue disorder which has many features similar to Marfan syndrome.

[7] by DF Malyuk · 2022 · Cited by 6 — As such, the diagnosis often requires a combination of radiological and clinical findings, family history, and genetic testing [2].

[8] Meester et al. (2024) - Meester-Loeys syndrome (MRLS, MIM #300989) is an X-linked thoracic aortic aneurysm and dissection (TAAD) syndrome caused by loss-of-function variants in the BGN gene.

[10] by Y Nakayama — Our initial differential diagnosis was Ehlers–Danlos syndrome or Marfan syndrome.