Sternal Cleft

Sternal cleft, also known as sternal fissure or sternal defect, is a rare congenital condition characterized by the incomplete fusion of the sternum (breastbone) during fetal development. The sternal cleft refers to a gap or fissure in the sternum, the long, flat bone located in the center of the chest. During normal development, the sternum forms as three separate segments that gradually fuse together. In individuals with a sternal cleft, this fusion process is incomplete, resulting in a visible separation in the chest wall. Causes of Sternal Cleft The exact cause of sternal clefts is not well understood. However, research suggests that genetic factors and environmental influences may play a role in the development of this condition. It is believed to occur due to abnormal growth and fusion of the sternum during embryonic development.

Types

Types of sternal clefts, their causes, and available treatment options.

  1. Complete Sternal Cleft: The complete sternal cleft is the most severe form of this condition. In this type, the sternum is completely split into two separate halves. The chest wall appears to have an open gap, which may extend from the suprasternal notch (the hollow at the base of the neck) to the xiphoid process (the lowermost part of the sternum).
  2. Partial Sternal Cleft: A partial sternal cleft is characterized by a partial split or fissure in the sternum. Unlike the complete cleft, this type does not extend from the suprasternal notch to the xiphoid process. Instead, it may involve only a portion of the sternum, resulting in a smaller gap.
  3. Median Sternal Cleft: A median sternal cleft is a variant of partial sternal cleft that occurs along the midline of the sternum. It typically manifests as a vertical or V-shaped cleft, resulting in a central indentation or gap in the chest. This type is often associated with other abnormalities such as heart defects and anomalies of the diaphragm.
  4. Superior Sternal Cleft: The superior sternal cleft is a rare type that involves the upper portion of the sternum. It is characterized by a vertical or oblique split in the upper part of the sternum, usually extending from the suprasternal notch towards the middle of the chest.
  5. Inferior Sternal Cleft: The inferior sternal cleft affects the lower part of the sternum. It is less common than other types and is typically characterized by a vertical or oblique split that starts from the xiphoid process and extends upwards.

Causes

Causes of sternal cleft, shedding light on this condition and its implications for affected individuals.

  1. Genetic Factors: Genetic abnormalities and mutations can contribute to the development of sternal cleft. Certain gene mutations or chromosomal abnormalities during embryonic development can disrupt the normal formation of the sternum.
  2. Environmental Factors: Exposure to certain environmental factors during pregnancy, such as toxins, radiation, or certain medications, may increase the risk of sternal cleft in the fetus.
  3. Maternal Smoking: Maternal smoking during pregnancy has been linked to an increased risk of various birth defects, including sternal cleft. The harmful substances in cigarette smoke can negatively affect fetal development.
  4. Maternal Alcohol Consumption: Consuming alcohol during pregnancy can lead to fetal alcohol spectrum disorders, including sternal cleft. Alcohol interferes with proper embryonic development and can cause structural abnormalities.
  5. Maternal Nutritional Deficiencies: Inadequate maternal nutrition, especially deficiencies in folic acid and other essential nutrients, can contribute to the development of sternal cleft in the fetus.
  6. Maternal Illnesses: Certain maternal illnesses, such as uncontrolled diabetes or infections during pregnancy, can impact fetal development and increase the risk of sternal cleft.
  7. Amniotic Band Syndrome: Amniotic band syndrome occurs when fibrous bands in the amniotic fluid entangle fetal body parts. If these bands constrict the developing sternum, it can result in sternal cleft.
  8. Pentalogy of Cantrell: Pentalogy of Cantrell is a rare condition characterized by multiple congenital abnormalities, including sternal cleft. It affects the development of the chest wall and abdominal organs.
  9. Cleft Lip and Palate: Individuals with cleft lip and palate may also have a higher likelihood of sternal cleft. The two conditions share some underlying genetic and developmental factors.
  10. Holt-Oram Syndrome: Holt-Oram syndrome is a genetic disorder that affects the development of the heart and upper limbs. It is associated with sternal cleft as one of its manifestations.
  11. Poland Syndrome: Poland syndrome is a rare condition characterized by the underdevelopment or absence of chest muscles, often accompanied by sternal cleft.
  12. Limb-Body Wall Complex: Limb-body wall complex is a severe birth defect that affects multiple organ systems. It can involve sternal cleft as part of the complex malformation.
  13. Thoraco-abdominal Ectopia Cordis: Thoraco-abdominal ectopia cordis is a rare condition where the heart is located partially or completely outside the chest cavity. Sternal cleft can be present in some cases.
  14. Marfan Syndrome: Marfan syndrome is a genetic disorder that affects the connective tissues in the body. In rare cases, it can lead to sternal cleft as a result of abnormal development.
  15. Ehlers-Danlos Syndrome: Ehlers-Danlos syndrome is a group of inherited connective tissue disorders. In some forms of the syndrome, sternal cleft can occur due to abnormal tissue development.
  16. Down Syndrome: Individuals with Down syndrome have an increased risk of various congenital abnormalities, including sternal cleft. The underlying genetic factors contribute to the development of this condition.
  17. Turner Syndrome: Turner syndrome is a genetic disorder that affects females and is characterized by the absence or abnormality of one X chromosome. It can be associated with sternal cleft.
  18. Trisomy 13: Trisomy 13, also known as Patau syndrome, is a chromosomal disorder that can result in multiple congenital abnormalities, including sternal cleft.
  19. Trisomy 18: Trisomy 18, also known as Edwards syndrome, is another chromosomal disorder associated with sternal cleft as one of its potential features.
  20. Trisomy 21: Trisomy 21, also known as Down syndrome, has an increased risk of sternal cleft among its various associated birth defects.
  21. Amniotic Fluid Deficiency: Insufficient amniotic fluid during pregnancy, known as oligohydramnios, can affect fetal development and contribute to the occurrence of sternal cleft.
  22. Rupture of Amnion: If the amniotic sac ruptures during pregnancy, it can lead to direct trauma or compression on the developing sternum, resulting in sternal cleft.
  23. Failed Fusion of Sternum: In normal development, the sternum forms from bilateral bars that fuse together. If this fusion process fails, it can result in a sternal cleft.
  24. Defects in Mesenchymal Migration: Problems with the migration of mesenchymal cells during embryonic development can disrupt the formation of the sternum and lead to sternal cleft.
  25. Deficiency in Hedgehog Signaling: Hedgehog signaling is crucial for proper organogenesis during embryonic development. Disruptions in this signaling pathway can contribute to sternal cleft formation.
  26. Abnormalities in Neural Crest Cells: Neural crest cells play a vital role in the development of various structures, including the sternum. Abnormalities in these cells can lead to sternal cleft.
  27. Defects in Somite Formation: Somites are blocks of mesodermal tissue that give rise to various structures in the body, including the sternum. Malformation or absence of somites can result in the sternal cleft.
  28. Mechanical Forces: Excessive mechanical forces or pressure on the developing sternum during fetal movement can cause sternal cleft, particularly in cases of reduced protective tissue layers.
  29. Unknown Factors: In some instances, the exact cause of sternal cleft remains unknown. Further research is needed to uncover potential factors contributing to this condition.
  30. Combination of Factors: It is important to note that sternal cleft can arise from a combination of genetic and environmental factors, with different causes interacting to varying degrees in each case.

Symptoms

Common symptoms of sternal cleft and provide a detailed explanation of each,

  1. Visible Separation: One of the most apparent symptoms of sternal cleft is a visible separation in the middle of the chest, where the sternum fails to fuse properly. This separation may be noticeable at birth or become more evident as the child grows.
  2. Depression or Groove: In some cases, rather than a visible separation, a depression or groove may be present along the sternum, indicating a partial fusion failure.
  3. Chest Wall Abnormalities: Sternal cleft can lead to various chest wall abnormalities, such as an inward or outward protrusion, asymmetry, or unevenness of the chest, resulting in an irregular appearance.
  4. Breathing Difficulties: Individuals with sternal cleft may experience breathing difficulties due to the structural abnormality in the chest. This can result in shortness of breath, wheezing, or labored breathing.
  5. Recurrent Respiratory Infections: The compromised chest structure can make individuals with sternal cleft more susceptible to recurrent respiratory infections, such as pneumonia or bronchitis.
  6. Heart Murmurs: Some cases of sternal cleft may be associated with heart abnormalities, leading to the development of heart murmurs. A heart murmur is an extra or unusual sound heard during a heartbeat.
  7. Cyanosis: Cyanosis, a bluish discoloration of the skin or mucous membranes, may be observed in individuals with a sternal cleft. This occurs due to inadequate oxygenation of the blood.
  8. Difficulty Feeding: Infants with a sternal cleft may encounter difficulties during feeding, including poor latch, decreased appetite, or inadequate weight gain. These issues can arise due to weakened chest muscles or breathing difficulties.
  9. Failure to Thrive: Failure to thrive, a condition characterized by insufficient weight gain or growth in infants, can occur as a result of feeding difficulties associated with the sternal cleft.
  10. Chest Pain: Some individuals with a sternal cleft may experience chest pain, which can vary in intensity. The pain may be related to the structural abnormality itself or associated with complications such as musculoskeletal strain.
  11. Gastroesophageal Reflux Disease (GERD): GERD, a digestive disorder, can occur more frequently in individuals with a sternal cleft. It causes stomach acid to flow back into the esophagus, resulting in heartburn and other discomforting symptoms.
  12. Fatigue and Weakness: Chronic fatigue and weakness may be observed in individuals with a sternal cleft, often due to the increased effort required for breathing and reduced lung capacity.
  13. Scoliosis: Scoliosis, an abnormal curvature of the spine, can be a secondary effect of sternal cleft. The chest wall asymmetry can contribute to the development of this condition.
  14. Developmental Delays: In some cases, sternal cleft may be associated with developmental delays, particularly in motor skills. This can be attributed to the overall impact of the condition on the individual’s health and well-being.
  15. Increased Risk of Injuries: Due to the weakened chest structure, individuals with a sternal cleft may have an increased risk of chest injuries from trauma, accidents, or falls.

Diagnosis

Essential diagnosis and tests for sternal cleft,

  1. Physical Examination: During a physical examination, a healthcare provider will visually inspect the chest area for any visible signs of sternal cleft, such as a gap or depression in the sternum.
  2. Medical History Assessment: Taking a detailed medical history helps in identifying any genetic or environmental factors that may contribute to the development of sternal cleft.
  3. Chest X-ray: A chest X-ray can provide a clear image of the sternum, revealing any gaps or abnormalities that may indicate the presence of sternal cleft.
  4. Chest CT Scan: A computed tomography (CT) scan provides detailed cross-sectional images of the chest, allowing for a more precise evaluation of the sternum and the extent of the sternal cleft.
  5. Echocardiogram: An echocardiogram uses sound waves to create images of the heart, helping to assess any associated cardiac abnormalities commonly seen with sternal cleft.
  6. Magnetic Resonance Imaging (MRI): MRI scans produce detailed images of the chest and can help visualize soft tissues, providing additional information about the sternal cleft and any associated anomalies.
  7. Genetic Testing: Genetic testing may be recommended to identify any underlying genetic syndromes or chromosomal abnormalities associated with sternal cleft.
  8. Ultrasound: An ultrasound can be used to examine the chest area in infants and assess the presence and severity of sternal cleft.
  9. Electrocardiogram (ECG): An ECG measures the electrical activity of the heart, helping to detect any abnormalities in heart rhythm or structure that may be associated with sternal cleft.
  10. Blood Tests: Blood tests may be conducted to assess overall health, screen for any associated conditions, and rule out any underlying genetic or metabolic disorders.
  11. Pulmonary Function Tests: These tests evaluate lung function and can help identify any respiratory issues that may be associated with sternal cleft.
  12. Cardiac Catheterization: Cardiac catheterization involves inserting a thin tube into a blood vessel and guiding it to the heart to assess its structure and function, particularly if there are concerns about associated cardiac abnormalities.
  13. Fetal Ultrasound: If sternal cleft is suspected during pregnancy, a fetal ultrasound can help determine the presence and severity of the condition, enabling appropriate prenatal planning and counseling.
  14. Fetal MRI: Similar to fetal ultrasound, fetal MRI can provide more detailed images of the developing chest, helping to assess the extent of sternal cleft and any associated anomalies.
  15. Chest Auscultation: Using a stethoscope, a healthcare provider listens for any abnormal sounds or murmurs in the chest, which can provide additional clues about potential associated conditions.
  16. Nasogastric Tube Insertion: In some cases, a nasogastric tube may be inserted into the stomach through the nose to assess any associated feeding difficulties or anomalies.
  17. Renal Ultrasound: A renal ultrasound can help evaluate the kidneys for any associated abnormalities, as certain kidney conditions may be more prevalent in individuals with a sternal cleft.
  18. Thyroid Function Tests: Thyroid function tests may be conducted to assess the thyroid gland, as certain thyroid disorders are more commonly observed in individuals with a sternal cleft.
  19. Chromosomal Analysis: Chromosomal analysis can detect any chromosomal abnormalities associated with sternal cleft, such as Turner syndrome or Patau syndrome.
  20. Fetal Echocardiogram: If sternal cleft is suspected during pregnancy, a fetal echocardiogram can provide detailed images of the developing heart, helping to assess any associated cardiac abnormalities.
  21. Kidney Function Tests: Kidney function tests may be performed to evaluate the overall health and function of the kidneys, as certain kidney conditions may be present in individuals with sternal cleft.
  22. Thyroid Ultrasound: A thyroid ultrasound can help assess the thyroid gland for any structural abnormalities or nodules that may be associated with sternal cleft.
  23. Renal Function Tests: Renal function tests assess how well the kidneys are functioning, providing valuable information about kidney health in individuals with sternal cleft.
  24. Cardiac MRI: A cardiac MRI can provide detailed images of the heart’s structure and function, helping to assess any associated cardiac anomalies in individuals with sternal cleft.
  25. Fetal Genetic Testing: In cases where sternal cleft is suspected during pregnancy, fetal genetic testing can be performed to identify any specific genetic abnormalities associated with the condition.
  26. Fetal Blood Sampling: Fetal blood sampling involves extracting a small sample of blood from the fetus to assess any potential abnormalities or conditions associated with sternal cleft.
  27. Pulmonary Artery Catheterization: This procedure involves inserting a thin tube into a blood vessel and guiding it to the pulmonary artery to assess pulmonary function and identify any associated abnormalities.
  28. Skeletal Survey: A skeletal survey involves imaging various parts of the body to assess bone development and detect any additional skeletal abnormalities that may coexist with sternal cleft.
  29. Renal Function Imaging: Renal function imaging, such as a renogram or renal scintigraphy, can evaluate kidney function and identify any associated renal anomalies.
  30. Cardiac Catheter Angiography: Cardiac catheter angiography involves injecting a contrast dye into the heart’s blood vessels to assess their structure and identify any associated abnormalities.

Treatment

Treatments for sternal cleft, ranging from conservative approaches to surgical interventions.

  1. Observation and Monitoring: In some cases, mild sternal clefts may not require immediate intervention. Regular observation and monitoring of the condition’s progression, along with regular check-ups, can help manage the condition effectively.
  2. Physical Therapy: Physical therapy exercises that focus on strengthening the chest muscles and improving posture can aid in stabilizing the sternum and reducing the appearance of the cleft.
  3. Bracing: The use of a custom-fitted brace or chest support garment can provide external support to the sternum, encouraging proper alignment and promoting natural healing.
  4. Taping: Taping techniques, using specialized medical tapes, can be employed to temporarily close the sternal cleft, providing support and stability during physical activities.
  5. Compression Garments: Compression garments, such as elastic vests or binders, can be worn to exert gentle pressure on the sternum, aiding in its alignment and minimizing the visibility of the cleft.
  6. Orthotic Devices: Custom-made orthotic devices, such as chest plates or splints, can be utilized to support the sternum, correct deformities, and promote normal growth.
  7. Nutrition and Dietary Guidance: A well-balanced diet rich in essential nutrients, vitamins, and minerals is crucial for optimal bone health. Nutritional counseling can help individuals with sternal clefts maintain a healthy diet to support proper healing and development.
  8. Respiratory Support: In severe cases where respiratory function is compromised, specialized respiratory support systems, such as continuous positive airway pressure (CPAP), may be recommended to assist with breathing.
  9. Speech Therapy: In some instances, individuals with sternal clefts may experience speech difficulties. Speech therapy can address any related speech or swallowing issues and promote clear communication.
  10. Genetic Counseling: As sternal clefts can be associated with genetic abnormalities or syndromes, genetic counseling can provide valuable insights for affected individuals and their families, including information on recurrence risks and potential associated conditions.
  11. Surgical Repair – Primary Closure: Primary surgical closure involves the direct approximation of the edges of the cleft and securing them with sutures, allowing the sternum to fuse together naturally.
  12. Surgical Repair – Secondary Closure: Secondary surgical closure is performed when the primary closure was not successful or delayed. It involves the use of autologous tissue grafts or synthetic materials to bridge the cleft and promote sternum fusion.
  13. Custom-Made Sternal Implants: In complex cases, custom-made sternal implants, designed using advanced imaging technology, can be utilized to provide structural support and promote sternum alignment.
  14. Tissue Expansion: Tissue expansion techniques involve the gradual stretching of the surrounding skin and tissue to create enough tissue for primary closure, reducing the tension on the closure site.
  15. Osteotomy and Sternotomy: Osteotomy refers to the surgical cutting and reshaping of bones, while sternotomy involves creating an incision in the sternum. These procedures may be necessary for complex sternal cleft repair.
  16. Rib Grafting: Rib grafting involves taking a segment of rib bone and using it to bridge the gap in the sternum, promoting fusion and stability.
  17. Cartilage Grafting: In some cases, cartilage grafts, obtained from other areas of the body, such as the ear or rib, can be used to fill the sternal cleft and enhance stability.
  18. Minimally Invasive Surgery: Minimally invasive techniques, such as video-assisted thoracoscopic surgery (VATS), allow for smaller incisions, reduced scarring, and faster recovery times compared to traditional open surgeries.
  19. Tissue Engineering: Advancements in tissue engineering hold promise for sternal cleft repair. Synthetic or biologically derived materials can be used to create scaffolds, facilitating tissue regeneration and sternum fusion.
  20. Bone Morphogenetic Proteins (BMPs): BMPs are growth factors that can stimulate bone formation and healing. They may be used during surgical interventions to enhance the fusion and stability of the sternum.
  21. Platelet-Rich Plasma (PRP) Therapy: PRP therapy involves using concentrated platelets from the patient’s own blood to promote tissue healing and regeneration. It may be employed as an adjunct to surgical repair for sternal clefts.
  22. Laser Therapy: Low-level laser therapy (LLLT) can stimulate tissue repair and reduce inflammation. It may be utilized as a non-invasive treatment modality to aid in sternal cleft healing.
  23. Prophylactic Antibiotics: In surgical cases, prophylactic antibiotics may be administered to prevent infection and promote a healthy recovery.
  24. Pain Management: Appropriate pain management strategies, including the use of analgesics or non-pharmacological approaches, can help alleviate postoperative discomfort and enhance overall patient satisfaction.
  25. Wound Care: Proper wound care, including regular cleaning, dressing changes, and monitoring for signs of infection, is essential to prevent complications and promote optimal healing.
  26. Psychological Support: Living with a sternal cleft can have emotional and psychological impacts. Access to counseling or support groups can offer individuals and their families the necessary emotional support and coping strategies.
  27. Regular Follow-ups: Continued monitoring through regular follow-up visits allows healthcare professionals to assess healing progress, address any complications, and provide ongoing support and guidance.
  28. Collaboration with a Multidisciplinary Team: Sternal clefts often require the expertise of various healthcare professionals, including pediatric surgeons, orthopedic surgeons, plastic surgeons, geneticists, and others. Collaborating with a multidisciplinary team ensures comprehensive and individualized care.
  29. Education and Awareness: Spreading awareness about sternal clefts can contribute to early diagnosis and timely interventions. Educational resources for healthcare providers, parents, and affected individuals can empower them to make informed decisions.
  30. Research and Advancements: Ongoing research in the field of sternal clefts can lead to novel treatment approaches, improved surgical techniques, and better outcomes. Staying updated with the latest advancements is crucial for healthcare professionals and patients alike.
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Medications

Drug treatments for sternal cleft, providing detailed information on each treatment option to enhance visibility and accessibility for search engines and readers alike.

  1. Analgesics: Analgesic medications such as acetaminophen or ibuprofen can be used to manage pain associated with sternal cleft. These drugs help alleviate discomfort and promote the overall well-being of the affected individual.
  2. Antibiotics: In cases where there is a risk of infection, antibiotics may be prescribed. These medications help prevent and treat bacterial infections that can potentially arise from open wounds or surgical procedures.
  3. Anti-inflammatory drugs: Non-steroidal anti-inflammatory drugs (NSAIDs), such as naproxen or diclofenac, can help reduce inflammation around the sternal cleft area. This can aid in relieving pain and minimizing swelling.
  4. Antacids: Some individuals with a sternal cleft may experience acid reflux or gastroesophageal reflux disease (GERD). Antacids like omeprazole or ranitidine can help control stomach acid production, reducing the occurrence of acid reflux symptoms.
  5. Bronchodilators: If sternal cleft is accompanied by respiratory complications, bronchodilators such as albuterol may be prescribed. These medications help widen the airways, making breathing easier and relieving symptoms of respiratory distress.
  6. Cough suppressants: To manage persistent coughing associated with sternal cleft, cough suppressants like dextromethorphan may be recommended. These drugs help alleviate coughing fits, allowing the affected individual to experience relief and better sleep.
  7. Laxatives: Constipation can be a common issue for individuals with sternal cleft, especially after surgical interventions. Laxatives such as lactulose or senna can promote regular bowel movements, preventing discomfort and potential complications.
  8. Proton pump inhibitors: For individuals with GERD or excessive stomach acid production, proton pump inhibitors (PPIs) like esomeprazole or pantoprazole may be prescribed. PPIs reduce stomach acid levels, alleviating symptoms and protecting the esophagus from acid damage.
  9. Mucolytics: In cases where thick mucus accumulates in the respiratory tract, mucolytic medications like acetylcysteine can help thin and loosen the mucus, making it easier to clear the airways and reducing the risk of respiratory infections.
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