About cantrell-haller-ravich syndrome
What is cantrell-haller-ravich syndrome?
General Discussion
Pentalogy of Cantrell is a rare disorder that is present at birth (congenital). Pentalogy of Cantrell is characterized by a combination of birth defects. These birth defects can potentially involve the breastbone (sternum), the muscle that separates the chest cavity from the abdomen and aids in breathing (diaphragm), the thin membrane that lines the heart (pericardium), the abdominal wall, and the heart. Pentalogy of Cantrell occurs with varying degrees of severity, potentially causing severe, life-threatening complications. Most infants do not develop all of the potential defects, which may be referred to as incomplete pentalogy of Cantrell. When all five defects are present, this is referred to as complete pentalogy of Cantrell. The variability of the disorder from one individual to another can be significant. The exact cause of pentalogy of Cantrell is unknown. Most cases are believed to occur sporadically.
What are the symptoms for cantrell-haller-ravich syndrome?
Abdominal wall defects symptom was found in the cantrell-haller-ravich syndrome condition
There are various symptoms of the cantrell-haller-ravich syndrome. Some of them are mentioned below.
- The symptoms depend from person to person. While some infants can have only minor defects with an incomplete expression of the disorder, on the other hand, some infants can have life-endangering complications too.
- The chances of occurrence of cantrell-haller-ravich syndrome are at the time of birth with ectopia cordis and omphalocele.
- In some cases, the intestine of the infant may bulge out through a defect on either side of the umbilical cord. Also, in these types of cases, the omphalocele may not be present. The defection of many other forms of abdominal walls occurs in the pentalogy of Cantrell, including wide secretion of certain abdominal muscles.
- One of the major symptoms of cantrell-haller-ravich syndrome is when it is observed that the heart of the infant is located outside its normal position (ectopia cordis).
- Another symptom and the most serious situation is when the baby is born with abdominal organs coming outside or bulging through their defective covering. •Severe aching in the respiratory system with the bluish color of the lips and skin at birth.
- There is a defect named Diastasis of abdominal muscles, which starts to develop.
List of symptoms
Abnormal breastbone,Structural problems in the heart vessels,Presence of hernia at birth,Hole between the ventricles at the bottom of the heart, etc
List of conditions
Abnormal pericardium morphology,Abnormal sternum morphology,Abnormality of cardiovascular morphology,Congenital diaphragmatic hernia,Omphalocele,Ventricular septal defect,etc
List of Drugs
NA
What are the causes for cantrell-haller-ravich syndrome?
5.5 in 1 million births are affected with Cantrell Haller ravich syndrome. The disease comes with a varying range of severity, also causing life-threatening conditions. As the disease is a combination of a lot of birth defects, it is extremely important to get to know the causes of the same to avoid it from happening.
- Coming to the causes of Cantrell Haller ravich syndrome, in many cases, these are idiopathic, causes of which have not been found yet. Most of these Cantrell syndrome cases occur for no exact reason. However, in extreme cases, the causes of this condition are sometimes described with a genetic linkage to a locus at Xq25-q26.1.
•In some cases, Cantrell syndrome occurs sporadically. Research suggests that an infant may start experiencing the symptoms of such cases due to the abnormal development of the fetus’s midline embryonic tissue during the pregnancy. This may happen within fourteen to eighteen days after the woman conceives. - In recent years, a lot of cases of the Cantrell Haller Ravich Syndrome have been reported, which show that the condition may start developing due to a lot of genetic factors. However, more research needs to be conducted to determine the exact causes of the Cantrell Haller ravich syndrome.
Abnormal breastbone,Structural problems in the heart vessels,Presence of hernia at birth,Hole between the ventricles at the bottom of the heart, etc
List of conditions
Abnormal pericardium morphology,Abnormal sternum morphology,Abnormality of cardiovascular morphology,Congenital diaphragmatic hernia,Omphalocele,Ventricular septal defect,etc
List of Drugs
NA
What are the treatments for cantrell-haller-ravich syndrome?
The treatment for Cantrell Haller Ravich syndrome depends on the symptoms and may differ from individual to individual.
- In the case of cardiac, diaphragmatic, and other associated birth defects, surgery needs to be undergone. Most of the Cantrell syndrome cases are fatal without surgeries. In extreme cases, the affected individual may die despite undergoing surgical intervention.
- Cantrell Haller Ravich syndrome does not have any specific treatment and may be different for every individual. It may depend on a lot of factors starting from the size and type of the defects. The surgeries that need to be undergone immediately after the child’s birth may include repairing the omphalocele, sternum, diaphragm, pericardium, etc.
- Most of the time, Cantrell Haller Ravich syndrome causes other conditions as well. So, while treating Cantrell Haller Ravich syndrome, the doctors may also need to undergo certain surgeries immediately after the child’s birth to deal with the same. Once the lungs and cavities are grown appropriately, again, surgeries need to be undergone in the second stage. When the child is about two to three years old, reconstruction of the entire lower sternum needs to do.
List of symptoms
Abnormal breastbone,Structural problems in the heart vessels,Presence of hernia at birth,Hole between the ventricles at the bottom of the heart, etc
List of conditions
Abnormal pericardium morphology,Abnormal sternum morphology,Abnormality of cardiovascular morphology,Congenital diaphragmatic hernia,Omphalocele,Ventricular septal defect,etc
List of Drugs
NA
What are the risk factors for cantrell-haller-ravich syndrome?
Cantrell Haller Ravich Syndrome is nothing but a condition that is a combination of a number of birth defects in a child, the survival rate of which is as low as 37%.
- In the past few years, there have been tremendous advances in the medical sector. However, the concept of Cantrell syndrome remains a predominant theory.
- No genetic mutation has been proven to be responsible for the same yet.
- There have been cases of siblings having been affected with the same condition. If that is the case, the disease comes with a risk of familial inheritance. However, the majority of the cases have remained to be sporadic.
- Recent studies have held porcupines to be responsible for Cantrell Haller Ravich Syndrome, which strongly shows the risk included in the X-linked or Y-linked mutations.
- Lack of retinoic acid may also risk the development of diaphragm and cardiac.
- In most cases, genetic aberrations are held to be responsible for the full constellation of defects during childbirth.
- In extreme cases, if the individual has dyspnea, cyanosis, or lung infections during the pregnancy, it may increase the risk of the child having Cantrell Haller Ravich Syndrome.
- To avoid such conditions, the patients need to receive counseling related to mortality and morbidity risks.
Abnormal breastbone,Structural problems in the heart vessels,Presence of hernia at birth,Hole between the ventricles at the bottom of the heart, etc
List of conditions
Abnormal pericardium morphology,Abnormal sternum morphology,Abnormality of cardiovascular morphology,Congenital diaphragmatic hernia,Omphalocele,Ventricular septal defect,etc
List of Drugs
NA
Is there a cure/medications for cantrell-haller-ravich syndrome?
In most cases, there is no cure for Cantrell Haller Ravich Syndrome other than undergoing surgery for all the defects.
- In extreme cases, surgical interventions may increase the risk of mortality. Hence, many patients are given prophylactic antibiotics at the initial stage.
- Many patients in this condition require full life support and need to be taken care of by a multi-disciplinary team in the neonatal intensive care unit.
- With surgical repairs, all the defects related to cardiac malformations, abdominal walls, diaphragm, etc., are supposed to be corrected.
- The procedures of all these surgical interventions totally depend on the severity of the defects and the associated conditions. Cantrell Haller Ravich Syndrome includes both multi-stage surgery as well as single-stage surgery.
- When the case is more complex, the infant needs to undergo multi-stage surgery and vice versa. However, if the case is more complex, there is a possibility of the death of the affected ones even after undergoing various surgical interventions.
- When the case is less complex, the abdominal wall defects can be repaired by appropriate mobilization and stretching of the muscles.
Abnormal breastbone,Structural problems in the heart vessels,Presence of hernia at birth,Hole between the ventricles at the bottom of the heart, etc
List of conditions
Abnormal pericardium morphology,Abnormal sternum morphology,Abnormality of cardiovascular morphology,Congenital diaphragmatic hernia,Omphalocele,Ventricular septal defect,etc
List of Drugs
NA