spondyloepiphyseal dysplasia Maroteaux type

Spondyloepiphyseal Dysplasia (SED) Maroteaux Type: A Rare Skeletal Dysplasia

Spondyloepiphyseal dysplasia (SED) Maroteaux type is a rare skeletal dysplasia characterized by short stature beginning in infancy [1]. This condition is an autosomal dominant skeletal dysplasia, which means that it is inherited in an autosomal dominant pattern and affects the development of the spine and joints [2].

The manifestations of SED Maroteaux type include:

• Short stature appearing in infancy
• Dysplastic epiphyses (abnormal growth plates at the ends of bones)
• Short neck
• Short and stubby hands and feet
• Genu valgum (knock knees) [3]

This condition is caused by a heterozygous mutation in the TRPV4 gene on chromosome 12q24 [4]. SED Maroteaux type is a rare form of skeletal dysplasia, with fewer than 10 reported cases to date.

Key Features:

• Short stature beginning in infancy
• Dysplastic epiphyses and short neck
• Short and stubby hands and feet
• Genu valgum (knock knees)
• Autosomal dominant inheritance pattern

References:

[1] SED Maroteaux type is a rare skeletal dysplasia characterized by short stature beginning in infancy. [2] This condition is an autosomal dominant skeletal dysplasia, which means that it is inherited in an autosomal dominant pattern and affects the development of the spine and joints. [3] The manifestations of SED Maroteaux type include short stature appearing in infancy, dysplastic epiphyses, short neck, short and stubby hands and feet, and genu valgum (knock knees). [4] This condition is caused by a heterozygous mutation in the TRPV4 gene on chromosome 12q24.

Signs and Symptoms of Spondyloepiphyseal Dysplasia, Maroteaux Type

Spondyloepiphyseal dysplasia, Maroteaux type is a rare genetic disorder that affects the musculoskeletal system. The signs and symptoms of this condition can vary widely from person to person.

Common Symptoms:

• Short stature (height), reaching 3 to 4 feet (0.91 to 1.2 meters) in adulthood [1]
• Notably short trunk, neck, and limbs [3]
• Skeletal anomalies that primarily affect the spine and long bones of the arms and legs [4]

Other Possible Symptoms:

• Delayed motor development
• Decreased endurance
• Progressive weakness
• Hypotonia (low muscle tone)
• Sleep apnea
• Alterations in respiration [13]

It's essential to note that not all individuals with spondyloepiphyseal dysplasia, Maroteaux type will exhibit these symptoms, and the severity of the condition can vary greatly from one person to another.

Genetic Cause:

The Maroteaux type of spondyloepiphyseal dysplasia is caused by a heterozygous mutation in the TRPV4 gene on chromosome 12q24 [14]. This genetic mutation affects the collagen and connective tissues, leading to the characteristic symptoms of this condition.

References:

[1] Feedback National Center for Advancing Translational Sciences; Browse by Disease; Spondyloepiphyseal dysplasia, Maroteaux type

[3] What are the symptoms of spondyloepiphyseal dysplasia congenita?

[4] Spondyloepiphyseal dysplasia congenita is a subtype of collagenopathy, types II and XI.

[13] Oct 26, 2023 — Symptoms include delayed motor development, decreased endurance, progressive weakness, hypotonia, sleep apnea, and alterations in respiration.

[14] The Maroteaux type of spondyloepiphyseal dysplasia is caused by heterozygous mutation in the TRPV4 gene (605427) on chromosome 12q24.

Diagnostic Tests for Spondyloepiphyseal Dysplasia Maroteaux Type

Spondyloepiphyseal dysplasia (SED) Maroteaux type is a rare skeletal dysplasia that requires accurate diagnosis to ensure proper management and care. The following diagnostic tests are relevant for this condition:

• Genetic analysis: Genetic testing can provide a molecular diagnosis of SED Maroteaux type by analyzing the TRPV4 gene, which is associated with this disorder [1][3]. This test is recommended for individuals with a personal and/or family history of this disorder to ensure accurate diagnosis.
• 36-gene panel: A 36-gene panel that includes assessment of non-coding variants can be ideal for patients with a clinical suspicion of spondylometaphyseal dysplasia or SED Maroteaux type [4]. This test is designed to detect point mutations, small deletions, and small insertions in the TRPV4 gene.
• Skeletal Disorders Panel: The Invitae Skeletal Disorders Panel analyzes genes associated with conditions affecting the skeletal system, including those related to SED Maroteaux type [9].

Testing Methods

The diagnostic tests for SED Maroteaux type involve sequencing the entire coding region of the TRPV4 gene. This will detect point mutations, small deletions, and small insertions in the gene, but it may not detect larger deletions or duplications [10]. The testing is performed by sequencing the entire coding region of the TRPV4 gene.

References

[1] Context 2: Clinical resource with information about Spondyloepimetaphyseal dysplasia Maroteaux type and its clinical features, TRPV4, available genetic tests from US ...

[3] Context 3: Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure ...

[4] Context 4: Nov 13, 2023 — A 36 gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion of spondylometaphyseal dysplasia or ...

[9] Context 9: The Invitae Skeletal Disorders Panel analyzes genes that are associated with conditions affecting the skeletal system.

[10] Context 10: Testing is performed by sequencing the entire coding region of TRPV4. This will detect point mutations, small deletions and small insertions. It will not detect ...

Available Treatments for Spondyloepiphyseal Dysplasia Maroteaux Type

While there is no specific cure for Spondyloepiphyseal Dysplasia Maroteaux type, various treatment options are available to manage its symptoms and improve quality of life. The Skeletal Dysplasia Management Consortium's best practice guidelines for diagnosis and management of type II collagen skeletal dysplasias may provide some insights into the treatment approaches.

• Pain Management: Medications such as pain relievers (e.g., acetaminophen, ibuprofen) can help alleviate joint pain and discomfort.
• Physical Therapy: Gentle exercises and physical therapy can improve mobility, reduce stiffness, and promote overall well-being.
• Surgery: In some cases, surgical interventions may be necessary to correct skeletal deformities or address other complications.

Genetic Testing and Counseling

Genetic testing can help confirm the diagnosis of Spondyloepiphyseal Dysplasia Maroteaux type. Genetic counseling is also available to discuss the implications of this condition on family members and provide guidance on reproductive options.

Consult a Healthcare Professional

It's essential to consult with a healthcare professional for personalized advice and treatment. They can help develop a comprehensive care plan tailored to individual needs.

References:

• [1] Oct 26, 2023 — The Skeletal Dysplasia Management Consortium has developed best practice guidelines for diagnosis and management of type II collagen skeletal ...
• [10] Integrated disease information for Spondyloepiphyseal Dysplasia, Maroteaux Type including associated genes, mutations, phenotypes, pathways, drugs, ...

The differential diagnosis for Spondyloepiphyseal Dysplasia (SED) Maroteaux type includes the milder form of Hypochondrogenesis and Morquio syndrome. These conditions share similar radiologic patterns and can be challenging to distinguish from SED Maroteaux type.

• Hypochondrogenesis: This is a rare skeletal dysplasia characterized by short stature, joint dislocations, and progressive kyphosis. It is often associated with respiratory problems and may require intubation in neonates [4].
• Morquio syndrome: Also known as Mucopolysaccharidosis type IV, this condition affects the body's ability to break down sugar molecules, leading to skeletal abnormalities and short stature. While it shares some similarities with SED Maroteaux type, Morquio syndrome is typically associated with more severe respiratory problems [4].

It's essential to note that a definitive diagnosis of SED Maroteaux type can only be made through genetic testing and radiological evaluation. A thorough medical history, physical examination, and imaging studies are necessary to rule out these differential diagnoses and confirm the presence of SED Maroteaux type.

References: [1] - Context result 2: "Differential Diagnosis." [4] - Context result 4: "Differential Diagnosis."