spondylocostal dysostosis 2

Spondylocostal dysostosis 2 (SCDO2) is a rare genetic disorder characterized by abnormal vertebral and rib segmentation. The condition is associated with severe malformations of the bones in the spine and ribs.

Clinical Features:

• Short trunk relative to height
• Short neck
• Non-progressive mild scoliosis in most affected individuals (rarely, more significant scoliosis occurs)
• Thoracic insufficiency
• Fusion of ribs at costovertebral junction
• Angular vertebrae
• Vertebral clefts
• Sickle-shaped vertebrae

Inheritance Pattern:

SCDO2 is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations. The parents of an individual with SCDO2 typically do not show signs and symptoms of the condition, but they are carriers of one copy of the mutated gene.

References:

• [10] describes SCDO2 as a disorder characterized by abnormal vertebral and rib segmentation.
• [11] provides a detailed clinical description of SCDO2, including its characteristic features such as short trunk, short neck, and non-progressive mild scoliosis.
• [13] explains the autosomal recessive inheritance pattern of SCDO2.

Note: The information provided is based on the search results and may not be an exhaustive or definitive description of SCDO2.

Spondylocostal dysostosis (SCDO) Type 2, also known as Autosomal Recessive Spondylocostal Dysostosis (ARSD), is a rare genetic disorder characterized by defects in the bones of the spine and abnormalities of the ribs. The signs and symptoms of SCDO Type 2 can vary in severity but often include:

• Short-trunk dwarfism: A short body with normal-length arms and legs
• Small chest cavity: A smaller than usual chest size, which can lead to respiratory problems
• Misshapen and abnormally-fused vertebrae: Bones of the spine that are fused together or have abnormal shapes
• Fused ribs at the part nearest the spine: Ribs that are fused together near the spine

In addition to these physical characteristics, individuals with SCDO Type 2 may also experience:

• Respiratory problems: Due to the small chest cavity and misshapen vertebrae, breathing can be difficult
• Scoliosis and kyphosis: Abnormal curvatures of the spine that can lead to a hunched back or uneven shoulders
• Lordosis: An abnormal inward curvature of the lower back

It's essential to note that SCDO Type 2 is a rare condition, and not all individuals will exhibit all of these signs and symptoms. If you suspect that someone may have this condition, it's crucial to consult with a medical professional for an accurate diagnosis and proper care.

References:

• [1] Turnpenny P. D., Young E. ICVS (International Consortium for Vertebral Anomalies and Scoliosis) spondylocostal dysostosis...
• [2] Jarcho S., Levin P. Hereditary malformation of the vertebral bodies. Bulletin of the Johns Hopkins Hospital. 1938;62:216–226.
• [3] March 18, 2024 - Spondylocostal dysostosis, also known as Jarcho-Levin syndrome (JLS), is a rare, heritable axial skeleton growth disorder...

Spondylocostal dysostosis (SCDO) 2, also known as autosomal recessive SCDO, is a rare genetic disorder characterized by defects in the development of the spine and ribs. Diagnostic tests for this condition are crucial for an accurate diagnosis.

Molecular Genetic Testing

• Deletion/duplication analysis: This test can identify deletions or duplications in the genes responsible for SCDO 2, such as DLL3, MESP2, LFNG, and HES7 [1].
• Next-Generation Sequencing (NGS): This is a comprehensive genetic testing approach that can detect mutations in these genes, providing a molecular diagnosis of SCDO 2 [8].

Prenatal Diagnosis

• Fetal ultrasound: This imaging technique can detect vertebrae defects as early as 13 weeks gestation [3].
• Prenatal genetic testing: Once the autosomal recessive SCDO-related pathogenic variants have been identified in an affected family member, carrier testing for at-risk relatives and prenatal testing for a pregnancy at increased risk are possible [10].

Clinical Evaluation

• Clinical diagnosis is often supported by ultrasonography and spine radiographs [6].
• A thorough clinical evaluation, including a review of the patient's medical history and physical examination, can help identify individuals with SCDO 2.

It's essential to note that a comprehensive diagnostic approach may involve a multidisciplinary team of healthcare professionals, including geneticists, radiologists, and other specialists. Building a strong diagnostic team is crucial for an accurate diagnosis and effective management of SCDO 2 [14].

References:

[1] Clinical Molecular Genetics test for Spondylocostal dysostosis 2, autosomal recessive and using Deletion/duplication analysis, Next-Generation ...

[3] Fetal ultrasound can detect vertebrae defects as early as 13 weeks gestation (Turnpenny et al. 2017. PubMed ID: 20301771).

[6] Diagnosis is clinical and may be supported by ultrasonography and spine radiographs.

[8] by M Umair · 2022 · Cited by 10 — With the advent of NGS technology, molecular diagnosis of rare skeletal deformities such as spondylocostal dysostosis is now cost effective and quick (Umair et ...

[10] Once the autosomal recessive SCDO-related pathogenic variants have been identified in an affected family member, carrier testing for at-risk relatives, prenatal testing for a pregnancy at increased risk, and preimplantation genetic testing are possible.

Based on the provided context, it appears that there are some studies and research papers discussing the treatment options for spondylocostal dysostosis 2 (SCDO2), but specific information about drug treatment is limited.

However, I can provide some general information about the treatment of SCDO2. According to search result [8], treatment for SCDO2 is done both by medical and surgical means. Early on, attention is given to respiratory failure and pulmonary infections. Various surgical methods are used to correct scoliosis and increase thoracic volume.

Regarding drug treatment specifically, I couldn't find any direct information in the provided context about the use of drugs or medications for SCDO2. However, search result [11] mentions a study on Notch inhibition by the ligand DELTA-LIKE 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis. This study was published in 2011 and may provide some insights into the molecular mechanisms underlying SCDO2.

It's worth noting that treatment for SCDO2 is often focused on managing symptoms as they arise, rather than a specific cure or drug treatment. If you're looking for more information on this topic, I'd be happy to try searching again or help with any other questions you may have!

Spondylocostal dysostosis (SCDO) 2, also known as MESP2-related SCDO, is a subtype of SCDO characterized by severe vertebral and rib abnormalities. When considering the differential diagnosis for SCDO 2, several conditions should be taken into account.

• Other forms of SCDO: The most common form of SCDO, which is associated with mutations in the DLL3 gene, can present similarly to SCDO 2. However, the severity and specific features of vertebral and rib abnormalities may differ between the two subtypes.
• Spondylothoracic dysostosis (STD): This condition, also known as Jarcho-Levin syndrome, is a distinct entity from SCDO but can present with similar spinal and thoracic abnormalities. However, STD typically involves more pronounced thoracic involvement and may not always be associated with the same level of vertebral segmentation defects.
• Congenital scoliosis: This condition refers to a range of congenital spinal deformities that can result from various genetic or environmental factors. While some cases of congenital scoliosis may present with similar vertebral abnormalities, they are typically not associated with the same degree of rib involvement as SCDO 2.
• Other rare skeletal dysplasias: A few other rare skeletal dysplasias, such as spondyloepiphyseal dysplasia and spondylometaphyseal dysplasia, can present with similar vertebral abnormalities. However, these conditions are typically associated with distinct radiographic features and clinical presentations that differ from SCDO 2.

The diagnosis of SCDO 2 is primarily based on radiographic findings, including the presence of severe vertebral segmentation defects and rib abnormalities. Clinical evaluation, genetic testing, and differential diagnoses should be considered to accurately diagnose this condition [1][3][4][5][6].

References:

[1] Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae in combination with abnormalities of the ribs, is characterized clinically by a short trunk in proportion to height; short neck; and non-progressive mild scoliosis in most affected individuals – rarely, more significant scoliosis occurs. Respiratory function in neonates with severe SCDO can be compromised [10].

[3] Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae in combination with abnormalities of the ribs, is characterized clinically by a short trunk in proportion to height; short neck; and non-progressive mild scoliosis in most affected individuals – rarely, more significant scoliosis occurs [12].

[4] Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae in combination with abnormalities of the ribs, is characterized clinically by a short trunk in proportion to height; short neck; and non-progressive mild scoliosis in most affected individuals – rarely, more significant scoliosis occurs [13].

[5] Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae in combination with abnormalities of the ribs, is characterized clinically by a short trunk in proportion to height; short neck; and non-progressive mild scoliosis in most affected individuals – rarely, more significant scoliosis occurs [14].

[6] Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae in combination with abnormalities of the ribs, is characterized clinically by a short trunk in proportion to height; short neck; and non-progressive mild scoliosis in most affected individuals – rarely, more significant scoliosis occurs [15].