Affected children have multiple problems apparent at birth congenital birth defects. The specific symptoms will vary greatly from one child to another. Some cases may be mild; others may have life-threatening complications such as respiratory failure. Hydrocephalus is a condition in which excessive accumulation of cerebrospinal fluid in the skull causes pressure on the tissues of the brain and may result in abnormally enlarged head size macrocephaly.
Additional common symptoms associated with hydrocephalus include vomiting, irritability, seizures, and downward gaze of the eyes sunsetting.
In some cases, affected infants may experience delays in reaching developmental milestones developmental delays. The specific symptoms associated with hydrocephalus vary from one child to another. Affected children will not have all of the symptoms listed below. Vertebral Abnormalities Vertebral abnormalities are defects of the spinal column. In some cases, abnormal side-to-side curvature of the spine scoliosis and absence of the tailbone, which is the lowest bone of the spinal column, sacral agenesis may also occur.
Anal Atresia Some children with VACTERL with hydrocephalus may have a condition in which a thin covering blocks the anal opening or the passage that normally connects the anus and the lowest part of the large intestine rectum fails to develop, a condition is known as anal atresia or imperforate anus.
This condition prevents the normal passage of bowel contents. The normal heart has four chambers. The two upper chambers, known as atria, are separated from each other by a fibrous partition known as the atrial septum. The two lower chambers are known as ventricles and are separated from each other by the ventricular septum.
Valves connect the atria left and right to their respective ventricles. The aorta, the main vessel of arterial circulation, carries blood away from the left ventricle to the rest of the body. A VSD may occur in any portion of the ventricular septum. The size and location of the defect determine the severity of the symptoms.
A small ventricular septal defect may close on its own spontaneously or become less significant as the child matures and grows. A moderately-sized defect may affect the ability of the heart to pump blood efficiently to the lungs and the rest of the body congestive heart failure.
A large ventricular septal defect may cause life-threatening complications during infancy. In addition, esophageal atresia may be present. Esophageal atresia is a condition in which the tube esophagus that normally carries food from the mouth to the stomach narrows to a thin cord or ends in a pouch rather than providing passage to the stomach.
These two conditions may result in feeding and swallowing difficulties. Renal Abnormalities Children with VACTERL with hydrocephalus often have a variety of abnormalities affecting the kidneys and urinary tract including lack of development of one or both kidneys renal aplasia , malformation of one or both kidneys renal dysplasia , displaced or malpositioned kidneys renal ectopia , abnormal backflow reflux of urine into the tube ureter that carries urine to the bladder vesicoureteral reflux , resulting in abnormal accumulation of urine in the kidneys hydronephrosis.
In addition, affected children may experience frequent urinary tract infections and the urethral opening may not be at the end of the penis hypospadias. In some cases, a single umbilical artery instead of the normal two may be present. Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms.
X-linked recessive genetic disorders are conditions caused by an abnormal gene on the X chromosome. Females who have a disease gene present on one of their X chromosomes are carriers for that disorder. Carrier females usually do not display symptoms of the disorder because it is usually the X chromosome with the abnormal gene that is turned off.
Males have one X chromosome and if they inherit an X chromosome that contains a disease gene, they will develop the disease. Males with X-linked disorders pass the disease gene to all of their daughters, who will be carriers. Males can not pass an X-linked gene to their sons because males always pass their Y chromosome instead of their X chromosome to male offspring.
The exact prevalence of the disorder in the general population is unknown. Comparisons may be useful for a differential diagnosis: Such abnormalities may lead to abnormal bleeding and easy bruising, paleness of the skin pallor , recurrent infection, and other findings that typically become apparent from approximately three to 10 years of age. However, in some cases, pancytopenia and associated abnormalities hematologic findings may occur as early as infancy or as late as the third decade of life.
CHARGE association is a rare pattern of malformations that may affect several organ systems of the body. In most cases, CHARGE association appears to occur randomly for unknown reasons sporadically ; however, some familial cases have been reported. Baller-Gerold syndrome is a rare genetic disorder characterized by distinctive malformations of the skull and facial craniofacial area and bones of the forearms and hands. In affected infants, there is premature fusion of the fibrous joints cranial sutures between certain bones in the skull craniosynostosis.
Baller-Gerold syndrome is also characterized by underdevelopment hypoplasia or absence aplasia of the bone on the outer side of the forearms radii. In addition, the bone on the pinky side of the forearms ulnae is unusually short and curved and the thumbs may be underdeveloped or absent. The latter is characterized by an abnormal opening between the artery that transports oxygen-rich blood to most of the body aorta and the pulmonary artery, which carries oxygen-deficient blood to the lungs.
Baller-Gerold syndrome is usually thought to be inherited as an autosomal recessive trait. Diagnosis A diagnosis may be made based upon a complete physical exam and a variety of specialized tests to look for the major and minor features of VACTERL association occurring along with hydrocephalus. Many of the structural abnormalities radial defects, heart defects, anal atresia, etc.
Hydrocephalus may be treated by the insertion of a tube shunt to drain excess cerebrospinal fluid CSF away from the brain and into another part of the body where the CSF can be absorbed. Infants diagnosed with VACTERL with hydrocephalus will need to be followed by a number of medical and developmental specialists depending on their individual needs. Some of the medical specialists who often follow children with VACTERL with hydrocephalus include cardiologists, urologists, orthopedists, and ear, nose and throat physicians.
Genetic counseling may be of benefit for affected individuals and their families. Other treatment is symptomatic and supportive. A team approach is essential for these complex children. TIS is a congenital condition where severe deformities of the chest, spine, and ribs prevent normal breathing and lung development. The VEPTR is an implanted, expandable device that helps straighten the spine and separate ribs so that the lungs can grow and fill with enough air to breathe.
The length of the device can be adjusted as the patient grows. It is manufactured by Synthes Spine Co..