About edward's syndrome
What is edward's syndrome?
Trisomy 18 syndrome is a rare chromosomal disorder in which all or a critical region of chromosome 18 appears three times (trisomy) rather than twice in cells of the body. In some cases, the chromosomal abnormality may be present in only a percentage of cells, whereas other cells contain the normal chromosomal pair (mosaicism).
Depending on the specific location of the duplicated (trisomic) portion of chromosome 18--as well as the percentage of cells containing the abnormality--symptoms and findings may be extremely variable from case to case. However, in many affected infants, such abnormalities may include growth deficiency, feeding and breathing difficulties, developmental delays, mental retardation, and, in affected males, undescended testes (cryptorchidism). Individuals with trisomy 18 syndrome may also have distinctive malformations of the head and facial (craniofacial) area, such as a prominent back portion of the head; low-set, malformed ears; an abnormally small jaw (micrognathia); a small mouth with an unusually narrow roof (palate); and an upturned nose. Affected infants may also have narrow eyelid folds (palpebral fissures), widely spaced eyes (ocular hypertelorism), and drooping of the upper eyelids (ptosis). Malformations of the hands and feet are also often present, including overlapped, flexed fingers; webbing of the second and third toes; and a deformity in which the heels are turned inward and the soles are flexed (clubfeet [talipes equinovarus]). Infants with trisomy 18 syndrome may also have a small pelvis with limited movements of the hips, a short breastbone (sternum), kidney malformations, and structural heart (cardiac) defects at birth (congenital). Such cardiac defects may include an abnormal opening in the partition dividing the lower chambers of the heart (ventricular septal defect) or persistence of the fetal opening between the two major arteries (aorta, pulmonary artery) emerging from the heart (patent ductus arteriosus). Congenital heart defects and respiratory difficulties may lead to potentially life-threatening complications during infancy or childhood.
What are the symptoms for edward's syndrome?
The symptoms associated with trisomy 18 are extremely variable. Severity is dependent upon the percentage of cells that contain the third copy of the chromosome (mosaicism). Certain findings before birth (prenatally) and during infancy are considered characteristic of trisomy 18. In many patients, there is decreased movement in utero.
Affected infants may have poor suckling ability and associated feeding difficulties that can be supported with tube feeding, failure to grow and gain weight at the expected rate (Failure to thrive), and distinctive malformations of the head and facial (craniofacial) area. Many infants with trisomy 18 also have malformations of the hands and feet, additional skeletal defects, and structural abnormalities of the heart (congenital heart defects) and undescended testes in affected males (cryptorchidism).
Skeletal muscles and underlying connective and fatty tissues (subcutaneous and adipose tissue) may be underdeveloped (hypoplastic). Additional characteristics during infancy may include diminished muscle tone (hypotonia) followed by unusually increased tone (hypertonia) and muscle stiffness (rigidity) that is often due to tremors or Seizures; a weak cry; decreased response to environmental sounds due to anatomical abnormities of the ear; and/or repeated episodes in which there is a temporary cessation of breathing (apneic episodes).
Many infants with trisomy 18 also have distinctive characteristics of the craniofacial region. These may include a small head (microcephaly) that appears unusually long and narrow (dolichocephaly); a prominent back region of the head (occiput); a small mouth (microstomia); incomplete closure of the roof of the mouth (cleft palate) and/or an abnormal groove in the upper lip (cleft lip); a small jaw (micrognathia); or a short, webbed neck. Affected infants may also have an upturned nose; low-set, malformed ears; widely spaced eyes (ocular hypertelorism) with slanted or narrow eyelid folds (palpebral folds); and vertical skin folds covering the eyes’ inner corners (epicanthal folds).
Trisomy 18 may also be characterized by additional eye (ocular) malformations. For example, there may be drooping of the upper eyelids (ptosis) and an inability to completely close the eyes. Some affected infants also have clouding of the normally transparent front regions of the eyes (corneas); loss of transparency of the lenses (cataracts); or unusual smallness of the eyes (microphthalmia). Additional ocular malformations may include abnormal deviation of one eye in relation to the other (strabismus); inequality in the diameter of the pupils (anisocoria); rapid involuntary eye movements (nystagmus); and/or a decreased response to visual stimuli.
Many infants with trisomy 18 also have characteristic malformations of the hands and feet. The hands are typically clenched, with overlapping of the index finger (second finger) over the third finger and the “pinky” (fifth finger) over the fourth. Frequent findings also include unusual skin ridge patterns (dermatoglyphics) on the fingers and palms; underdeveloped (hypoplastic) nails, particularly those of the fifth fingers and toes; and abnormal deviation of the great toes (hallux) in an upwardly bent position (dorsiflexion). In some children, additional irregularities may be present such as the presence of extra fingers or toes (polydactyly); webbing (syndactyly) of one or more toes; or the feet appear shaped like the rocker of a rocking chair (“rocker-bottom feet”) with abnormal prominence of the heel Bones (calcaneus). Some infants also have a foot deformity in which the heels are turned inward and the soles are flexed or clubfeet (talipes equinovarus).
Many infants with trisomy 18 also have skeletal malformations such as a short breastbone (sternum); a small pelvis with limited outward movements (abduction) of the hips; or abnormalities of the ribs. There may be defects of certain Bones of the spinal column (vertebrae), including sideways curvature of the spine (scoliosis); underdevelopment of one half of certain vertebrae (hemivertebrae); or abnormal fusion of vertebrae.
As mentioned above, in males with the disorder, the testes may fail to descend into the scrotum (cryptorchidism). Trisomy 18 may also be associated with additional genital malformations. In some affected males, there may be division of the scrotum into two parts (bifid scrotum) and/or abnormal placement of the urinary opening (hypospadias), such as on the underside of the penis. In some females with the disorder, there is underdevelopment (hypoplasia) of the outer skin folds (labia majora) surrounding the vaginal opening and abnormal prominence of the relatively small, sensitive protrusion (clitoris) that forms part of the female external genitalia.
Trisomy 18 is also often characterized by structural heart (cardiac) defects that are present at birth (congenital heart defects). Many affected infants have an abnormal opening in the fibrous partition (septum) that separates the lower chambers of the heart (ventricular septal defect; VSD). Another common finding is abnormal persistence of the fetal opening between the two major arteries (aorta, pulmonary artery) that emerge from the heart (patent ductus arteriosus; PDA). Additional cardiac defects may be present including narrowing (stenosis) of the opening between the right ventricle and the artery that carries oxygen-deficient blood to the lungs (pulmonary artery); narrowing of the major artery that transports oxygen-rich blood from the heart to all parts of the body (coarctation of the aorta); and/or abnormalities of heart valves.
Some infants with trisomy 18 have malformations of the abdominal wall and the kidneys. For example, there may be protrusion of portions of the intestine through an abnormal opening in muscles of the groin (inguinal hernia) or the abdominal wall near the navel (umbilical hernia). Some infants with trisomy 18 have an omphalocele, a birth defect in which varying amounts of intestines or other abdominal organs (viscera), covered by a membrane-like sac, protrude through an opening in the abdominal wall near the navel. Some affected infants may have kidneys that are abnormally positioned (ectopic) or joined together (horseshoe kidneys) or contain multiple cysts (polycystic kidneys). There may also be Swelling of the kidneys with urine due to narrowing or blockage of the tubes that carry urine from the kidneys to the bladder (hydronephrosis).
Some affected infants may also have malformations of the brain and spinal cord (central nervous system; CNS). These may include absence (agenesis) or underdevelopment (hypoplasia) of the thick band of nerve fibers connecting the two hemispheres of the brain (corpus callosum); protrusion of part of the spinal cord and its surrounding membranes (meninges) through an abnormal opening in the spinal column (myelomeningocele); or other malformations.
Congenital heart defects, respiratory difficulties (e.g., apneic episodes, aspiration), or other abnormalities associated with the disorder may lead to potentially life-threatening complications during infancy or childhood.
Trisomy 18 is also typically characterized by intellectual disability, along with delayed verbal, and motor development. Yet, children do communicate through facial expressions, gestures and vocalizations. Some are able to use augmentative communication devices and systems. Mobility needs can be addressed through orthotics, gait trainers and other assistive devices as tolerated. Individuals with trisomy 18 recognize family members and caregivers and can display a range of emotions including indicating preferences for items and people in their environment.
What are the causes for edward's syndrome?
Most cases of trisomy 18 result from having three copies of chromosome 18 in each cell in the body instead of the usual two copies. The extra genetic material disrupts the normal course of development, causing the characteristic features of trisomy 18.
Approximately 5 percent of people with trisomy 18 have an extra copy of chromosome 18 in only some of the body's cells. In these people, the condition is called mosaic trisomy 18. The severity of mosaic trisomy 18 depends on the type and number of cells that have the extra chromosome. The development of individuals with this form of trisomy 18 may range from normal to severely affected.
Very rarely, part of the long (q) arm of chromosome 18 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs and sperm) or very early in embryonic development. Affected individuals have two copies of chromosome 18, plus the extra material from chromosome 18 attached to another chromosome. People with this genetic change are said to have partial trisomy 18. If only part of the q arm is present in three copies, the physical signs of partial trisomy 18 may be less severe than those typically seen in trisomy 18. If the entire q arm is present in three copies, individuals may be as severely affected as if they had three full copies of chromosome 18.
What are the treatments for edward's syndrome?
The treatment of trisomy 18 is directed toward the specific symptoms in each affected individual. Treatment often requires the coordinated efforts of a multidisciplinary team of medical professionals.
For many affected infants, supportive measures may be required to improve feeding and the intake of necessary nutrients. Such measures may include the delivery of liquid nutrients to the stomach through a tube inserted through the nose (nasogastric tube feeding) or stomach (gastrostomy). In addition, oxygen therapy may be required to ensure sufficient oxygen supply to bodily tissues or placement of a tracheostomy. Some individuals need support from a ventilator after invasive procedures or surgeries and most can be successfully weaned.
Recommended treatment may include surgical correction of certain abnormalities associated with the disorder which may help to improve quantity and quality of life. The surgical procedures performed will depend upon the nature and severity of the anatomical malformations, their associated symptoms, and other unique factors. Individuals have received palliative and more aggressive interventions for cardiac malformations. For example, in recent years, many individuals have had successful cardiac surgery to correct VSD.
A prevalent symptom among individuals with trisomy 18 is the presence of malignancies. It is recommended to have early imaging and lab exams done at specific intervals. For example, monitoring for Wilms tumor (a rare kidney cancer) is recommended every three months by abdominal ultrasound for children over one year of age. Nephroblastomatosis is commonly seen as a precursor to Wilms tumor. The possibility of hepatoblastoma (liver cancer) has also been reported in children with trisomy 18. Chemotherapy and surgical resection for patients with stable cardiac function can prolong life.
A team approach for children with this disorder may include early intervention (birth to age three services) special education, physical therapy, occupational therapy, speech therapy in addition to necessary medical professionals and social services including in home nursing care and respite care as feasible. Coordinated treatment for this disorder is symptomatic and supportive.
Genetic counseling is recommended for families with children with trisomy 18.
This resource suggests a shared decision making model to help families and physicians provide the most optimal patient care.
What are the risk factors for edward's syndrome?
You may be surprised to learn that there are very few risk factors for Edwards syndrome.
There may be an increased chance of having a baby with a trisomy as you get older. While different reports show mothers in their late teens and 20s can have children with trisomy 18, the mean age is closer to 32.5 years old.
In rare cases, trisomy 18 may be inherited from a biological parent (through balanced translocation). If you already have had one child with a trisomy, your doctor may suggest getting genetic testing to assess your chances of having another child with a similar condition.
The vast majority of the time, though, Edwards syndrome happens by chance during conception when the sperm meets the egg.
Is there a cure/medications for edward's syndrome?
Edwards Syndrome (also known as Trisomy 18 (T18) or Trisomy E) is a rare but serious genetic disorder caused by the presence of an extra copy of the 18th chromosome in the baby, which is highly unpredictable. Sadly, the majority of the infants born with this disease die shortly after their birth. There’s no cure for this syndrome.
- Even if a baby survives birth, their condition is frequently severe, but each child with Edwards syndrome (trisomy 18) is treated differently depending on how severe their diagnosis is.
- Some infants with cardiac issues brought on by Edwards syndrome may require surgery.
- The delayed physical development of children with Edwards syndrome makes it difficult for them to eat normally. A feeding tube is used to support the baby in its early stages.
- Children with Edwards syndrome (trisomy 18) may have spinal issues like scoliosis, which affect their movement. To treat it, orthopaedic treatment could involve bracing or surgery.
- Psychological support is offered to families dealing with the difficult challenges of Edwards syndrome to assist you in navigating the diagnosis and coping with the loss of your child.