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Spodylocostal dysostosis 2

Spodylocostal dysostosis 2



Overview

Spondylocostal dysostosis is a rare, inherited skeletal disorder characterized by malformations of the spine and ribs, leading to a short trunk and neck, and often causing life-threatening respiratory problems due to a reduced-size chest cavity. It is a congenital (present at birth) condition, with diagnosis made in the newborn period. While some individuals may survive into adulthood, particularly with milder forms, many experience severe respiratory issues and may have associated conditions like spina bifida. 

Symptoms

Skeletal and Physical Symptoms

Short Trunk and Neck: The most defining feature is a short torso and a short, rigid neck due to malformed vertebrae and ribs. 

Abnormal Spine: There are many segmentation defects in the vertebrae, including malformed, fused, or absent vertebrae. This can result in scoliosis (side-to-side curvature of the spine). 

Rib Abnormalities: Ribs can be fused together or missing, contributing to the "crab-like" appearance of the thorax. 

Normal Limbs: Arms and legs are typically of normal length. 

Respiratory and Other Issues

Breathing Problems: The small, underdeveloped chest restricts lung expansion, leading to severe breathing issues and recurrent lung infections, especially in infancy. 

Inguinal Hernias: The increased abdominal pressure from the constricted chest can force tissue through an opening in the abdominal wall, causing an inguinal hernia. 

Protuberant Abdomen: The abdomen may appear to push out due to the pressure from the diaphragm being forced down by the small chest. 

Neural Tube Defects: Some individuals with SCD may also have neural tube defects, which are abnormalities in the brain or spinal cord, such as spina bifida or a Chiari malformation. 

Severity and Prognosis

Breathing problems can be life-threatening in early life, though many individuals can live into adulthood, especially if their lung growth improves after the first year. 

Treatment focuses on managing symptoms, with mechanical breathing support sometimes required for infants. 

Causes

Gene Mutation: An inherited mutation occurs in the MESP2 gene, located on chromosome 15q26. 

Protein Malfunction: The MESP2 gene provides instructions for a protein vital for a developmental process known as somite segmentation. 

Improper Segmentation: The MESP2 gene mutation results in either no protein or an abnormal, nonfunctional protein being produced. 

Skeletal Malformations: Without a functional MESP2 protein, the somites do not separate properly, leading to the fusion of vertebrae and ribs, and other malformations. 

Diagnosis

Clinical Evaluation: A doctor will examine the patient for physical signs like short stature with a disproportionately short trunk and neck, and signs of respiratory distress or frequent chest infections. 

Radiographic Studies:

X-rays: are crucial for visualizing the spine and ribs, revealing abnormalities such as vertebral fusion, missing vertebrae (agenesis), or vertebral malformations (like butterfly vertebrae), and rib anomalies including fusion or malalignment. The appearance of the rib cage can be described as "crab-like". 

Computed Tomography (CT) scans: provide detailed cross-sectional images of the spine and ribs, aiding in the assessment of the extent of the vertebral and rib malformations. 

Magnetic Resonance Imaging (MRI): is important for evaluating associated brain and spine anomalies, such as split cord malformations, and for a comprehensive understanding of the spinal canal. 

Genetic Testing:

Once radiological findings are suggestive of the disorder, molecular genetic testing can confirm the diagnosis and identify the specific gene mutation. 

Identification of mutations in genes such as DLL3, MESP2, LFNG, HES7, or TBX6 helps define the specific type of autosomal recessive Spondylocostal dysostosis. This allows for genetic counseling and family planning for other family members. 

Diagnostic Criteria

A diagnosis of Jarcho-Levin Syndrome, a type of spondylocostal dysostosis, can be made based on major and minor criteria. 

Major Criteria: Presence of multiple vertebral anomalies (e.g., hemivertebrae, fusion), rib anomalies (e.g., fusion, crowding), a genetic mutation in a known SCDO-related gene, or specific prenatal sonographic findings.

Minor Criteria: Consanguineous marriage or a sibling with a confirmed diagnosis of Jarcho-Levin syndrome.

Treatment

Conservative Management

Chest Physiotherapy: Essential for preventing and treating respiratory tract infections, which are a major complication of SCD. 

Regular Follow-up: Close clinical follow-up, especially in infancy, is crucial due to high rates of infant mortality and morbidity. 

Surgical Interventions

VEPTR Placement: A vertically expandable device that can be serially lengthened to expand the thoracic volume, facilitating lung development and correcting scoliosis. 

Chest Wall Reconstruction: Procedures like latissimus dorsi flap transfers can address thoracic insufficiency and paradoxical chest wall movements, improving respiratory function. 

Scoliosis Surgery: Corrective surgery may be necessary for significant scoliosis to improve lung function and address spinal deformities. 

Managing Other Complications

Respiratory Support: Intensive care and mechanical ventilation are provided for acute respiratory distress and chronic respiratory failure. 

Cardiac Issues: Expert management is needed for cardiac complications that can arise from chronic respiratory failure. 

Hernias: Treatment for hernias, which can occur due to the pressure from the diaphragm pushing the abdomen out, is also part of comprehensive care. 

Type of Doctor Department : A Medical Geneticist

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