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more than 3 weeks ago
Edwards syndrome, also known as trisomy 18, is a genetic disorder caused by the presence of an extra copy of chromosome 18. This extra genetic material disrupts normal development and can lead to a variety of physical and intellectual disabilities.
Individuals with Edwards syndrome often have characteristic facial features, such as a small jaw, low-set ears, and clenched fists with overlapping fingers. They may also have heart defects, kidney problems, and other organ abnormalities. Developmental delays, intellectual disabilities, and feeding difficulties are common in individuals with Edwards syndrome.
Unfortunately, Edwards syndrome is associated with a high rate of infant mortality, with many affected individuals not surviving past their first year of life. Those who do survive may require ongoing medical care and support to manage their health and developmental challenges.
Individuals with Edwards syndrome often have characteristic facial features, such as a small jaw, low-set ears, and clenched fists with overlapping fingers. They may also have heart defects, kidney problems, and other organ abnormalities. Developmental delays, intellectual disabilities, and feeding difficulties are common in individuals with Edwards syndrome.
Unfortunately, Edwards syndrome is associated with a high rate of infant mortality, with many affected individuals not surviving past their first year of life. Those who do survive may require ongoing medical care and support to manage their health and developmental challenges.
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Google Gemini AI
more than 3 weeks ago
Edwards Syndrome (Trisomy 18)
Definition:
Edwards syndrome is a rare genetic disorder caused by the presence of three copies of chromosome 18 (trisomy 18), rather than the normal two copies.
Incidence:
Edwards syndrome occurs in approximately 1 in 5,000 to 1 in 10,000 live births.
Causes:
The extra copy of chromosome 18 can occur due to an error during cell division called nondisjunction. This error can occur in either the sperm or the egg.
Clinical Features:
Edwards syndrome can lead to a wide range of physical abnormalities and developmental delays, including:
- Facial characteristics: Cleft lip and palate, low-set ears, micrognathia (small jaw)
- Heart defects: Atrial septal defect (ASD), patent ductus arteriosus (PDA), tetralogy of Fallot
- Kidney abnormalities: Horseshoe kidneys, hydronephrosis (swelling of the kidneys)
- Limb abnormalities: Flexed fingers (clenched fists), clubfoot, rocker-bottom feet
- Gastrointestinal defects: Omphalocele (bowel protrusion through the navel), diaphragmatic hernia
- Neurological abnormalities: Microcephaly (small head), mental retardation
- Prenatal growth retardation: Slow fetal growth and low birth weight
Diagnosis:
Edwards syndrome can be diagnosed before birth through prenatal testing, such as amniocentesis or chorionic villus sampling (CVS). After birth, it can be diagnosed based on the physical features and genetic testing.
Prognosis:
Edwards syndrome is a serious and life-limiting condition. Most infants with Edwards syndrome die within the first year of life due to heart defects, respiratory problems, or infection. Some infants may survive longer with intensive medical care.
Treatment:
There is no cure for Edwards syndrome. Treatment focuses on managing the symptoms and providing support to the child and family. This may include:
- Surgery to correct heart defects or other physical abnormalities
- Ventilator support for respiratory problems
- Palliative care to provide comfort and support
Genetic Counseling:
Genetic counseling is recommended for families affected by Edwards syndrome to discuss the risks of recurrence in future pregnancies.
Definition:
Edwards syndrome is a rare genetic disorder caused by the presence of three copies of chromosome 18 (trisomy 18), rather than the normal two copies.
Incidence:
Edwards syndrome occurs in approximately 1 in 5,000 to 1 in 10,000 live births.
Causes:
The extra copy of chromosome 18 can occur due to an error during cell division called nondisjunction. This error can occur in either the sperm or the egg.
Clinical Features:
Edwards syndrome can lead to a wide range of physical abnormalities and developmental delays, including:
- Facial characteristics: Cleft lip and palate, low-set ears, micrognathia (small jaw)
- Heart defects: Atrial septal defect (ASD), patent ductus arteriosus (PDA), tetralogy of Fallot
- Kidney abnormalities: Horseshoe kidneys, hydronephrosis (swelling of the kidneys)
- Limb abnormalities: Flexed fingers (clenched fists), clubfoot, rocker-bottom feet
- Gastrointestinal defects: Omphalocele (bowel protrusion through the navel), diaphragmatic hernia
- Neurological abnormalities: Microcephaly (small head), mental retardation
- Prenatal growth retardation: Slow fetal growth and low birth weight
Diagnosis:
Edwards syndrome can be diagnosed before birth through prenatal testing, such as amniocentesis or chorionic villus sampling (CVS). After birth, it can be diagnosed based on the physical features and genetic testing.
Prognosis:
Edwards syndrome is a serious and life-limiting condition. Most infants with Edwards syndrome die within the first year of life due to heart defects, respiratory problems, or infection. Some infants may survive longer with intensive medical care.
Treatment:
There is no cure for Edwards syndrome. Treatment focuses on managing the symptoms and providing support to the child and family. This may include:
- Surgery to correct heart defects or other physical abnormalities
- Ventilator support for respiratory problems
- Palliative care to provide comfort and support
Genetic Counseling:
Genetic counseling is recommended for families affected by Edwards syndrome to discuss the risks of recurrence in future pregnancies.
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