axial spondylometaphyseal dysplasia

Axial spondylometaphyseal dysplasia (SMDAX) is a rare genetic disorder that affects the growth and development of bones in the body. The term "axial" refers to the center of the body, indicating that this condition primarily affects the bones of the chest, pelvis, spine, upper arms, and upper legs.

Characteristics:

• Postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood [3][13]
• Thoracic hypoplasia, which may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection [3][13]
• Shortened stature due to abnormalities at the ends of long bones (metaphyseal dysplasia) [1][5][15]

Radiological hallmarks:

• Short ribs with flared, cupped anterior ends
• Mild spondylar dysplasia
• Lacy iliac crests
• Metaphyseal irregularities [7]

Other features:

• Progressive postnatal growth failure with rhizomelic shortening of the limbs
• Deformed, hypoplastic thorax
• Retinitis pigmentosa and optic atrophy in some cases (autosomal recessive forms) [4]

Axial spondylometaphyseal dysplasia is a rare and complex condition that requires careful diagnosis and management. If you have any further questions or would like to know more about this topic, please feel free to ask!

Common Signs and Symptoms

Axial spondylometaphyseal dysplasia (SMDAX) is characterized by several distinct signs and symptoms, which can vary in severity from person to person. The following are some of the common features associated with this condition:

• Short stature: People with axial SMD often experience growth failure, leading to short stature, particularly in early childhood.
• Chest deformity: A prominent sternum (breastbone) and flat feet are common physical examination findings.
• Spine and limb changes: X-rays may show platyspondyly (flattened vertebrae), metaphyseal deformations, bone rarefaction, aerated bone containing trabeculae, and cortical irregularity in the ribs and long bones.
• Vision disturbance: Axial SMD is associated with early and progressive vision loss, which can be severe.
• Respiratory problems: Mild to moderate respiratory issues may occur due to thoracic hypoplasia (underdeveloped chest).
• Short trunk: In late childhood, the short stature often evolves into a short trunk.

These signs and symptoms are often present from birth or become apparent in early childhood. It's essential to note that each individual may experience a unique combination of these features, and not everyone will exhibit all of them.

References:

[6] Common signs and sympotms of axial spondylometaphyseal dysplasia, include short stature, chest, spine, limb, and pelvic bone changes, and vision disturbance ... [8] Common signs and sympotms of axial spondylometaphyseal dysplasia, include short stature, chest, spine, limb, and pelvic bone changes, and vision disturbance ... [11] Common signs and sympotms of axial spondylometaphyseal dysplasia, include short stature, chest, spine, limb, and pelvic bone changes, and vision disturbance. [1] [14] Axial spondylometaphyseal dysplasia (SMDAX) is characterized by postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection ...

Axial spondylometaphyseal dysplasia (SMDAX) can be challenging to diagnose, but various diagnostic tests and genetic analyses are available to confirm the condition. Here are some of the diagnostic tests that may be used:

• Genetic analysis: Genetic testing is a crucial step in diagnosing SMDAX. A 36 gene panel that includes assessment of non-coding variants (search result [5]) can help identify the underlying genetic cause of the disorder.
• Clinical Molecular Genetics test: This test uses deletion/duplication analysis, Next-Generation (NGS)/Massively parallel sequencing to provide a molecular diagnosis of SMDAX (search result [8]).
• Radiologic hallmarks: Radiographic features such as short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities can be observed in individuals with SMDAX (search result [9]).

It's essential to note that a diagnosis of SMDAX may involve a combination of these diagnostic tests. A healthcare professional or genetic counselor can help determine the most appropriate course of action for an individual suspected of having this condition.

References:

• Search result [5]: A 36 gene panel that includes assessment of non-coding variants.
• Search result [8]: Clinical Molecular Genetics test using deletion/duplication analysis, Next-Generation (NGS)/Massively parallel sequencing.
• Search result [9]: Radiologic hallmarks include short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities.

Current Treatment Options for Axial Spondylometaphyseal Dysplasia

Unfortunately, there is no specific treatment available for axial spondylometaphyseal dysplasia. However, the symptoms associated with this condition can be managed through various treatments.

• Pain Management: Pain relief medications may be prescribed to alleviate discomfort and pain in affected individuals.
• Respiratory Support: In cases where respiratory problems are present, oxygen therapy or other supportive measures may be necessary to ensure proper breathing.
• Orthopedic Care: Orthotics, physical therapy, and other interventions can help manage musculoskeletal issues such as short stature, limb deformities, and scoliosis.

No Effective Treatment Known

According to the available information, there is no effective treatment known for axial spondylometaphyseal dysplasia. The condition's rarity and complexity make it challenging to develop targeted therapies.

• References: [6] (There is no specific treatment for axial spondylometaphyseal dysplasia.)
• [8] (Article Title: Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.)

Axial spondylometaphyseal dysplasia (SMD) is a rare skeletal disorder, and its differential diagnosis can be complex. Based on the search results, here are some conditions that may be considered in the differential diagnosis of axial SMD:

• Shwachman-Bodian-Diamond syndrome: This is a rare genetic disorder characterized by skeletal abnormalities, including short stature, short limbs, and metaphyseal changes (Search result 5).
• Jeune asphyxiating thoracic dysplasia: This is another rare genetic disorder that affects the development of the chest cavity and can lead to respiratory problems (Search result 5).
• Morquio syndrome: This is a type of mucopolysaccharidosis characterized by short stature, skeletal abnormalities, and other systemic features (Search result 6).
• Multiple epiphyseal dysplasia: This is a rare genetic disorder that affects the development of the joints and can lead to short stature and skeletal abnormalities (Search result 6).
• Spondyloepimetaphyseal dysplasia: This is another type of skeletal dysplasia characterized by short stature, skeletal abnormalities, and other systemic features (Search result 6).
• Kniest dysplasia: This is a rare genetic disorder that affects the development of the joints and can lead to short stature and skeletal abnormalities (Search result 6).
• Sponastrime dysplasia: This is an autosomal recessive disorder characterized by severe platyspondyly, metaphyseal deformities, and other systemic features (Search result 7).
• DDR2-related spondylometaepiphyseal dysplasia: This is a rare genetic disorder that affects the development of the joints and can lead to short stature and skeletal abnormalities (Search result 8).

It's worth noting that these conditions may have overlapping clinical and radiographic features with axial SMD, making differential diagnosis challenging. A comprehensive evaluation by a multidisciplinary team of healthcare professionals, including geneticists, orthopedic surgeons, and radiologists, is essential to accurately diagnose and manage patients with axial SMD.