Describe Edward's syndrome
Answers
Answer:
Edwards syndrome is marked by a low birth weight and certain abnormal features. These include a small, abnormally shaped head; a small jaw and mouth; clenched fists with overlapping fingers; and heart, lung, kidney, intestine, and stomach defects.
Edwards syndrome, also known as trisomy 18, is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18. Many parts of the body are affected. Babies are often born small and have heart defects. Other features include a small head, small jaw, clenched fists with overlapping fingers, and severe intellectual disability.
Specialty ➪ Medical genetics, pediatrics
Symptoms ➪ Small head, small jaw, clenched fists with overlapping fingers, profound intellectual disability
Complications ➪ Heart defects
Usual onset➪ Present at birth
Causes ➪Third copy of chromosome 18 (usually new mutation)
Risk factors ➪ Older mother
Diagnostic method ➪ Ultrasound, amniocentesis
Treatment ➪ Supportive care
Prognosis ➪ 5–10% survive past a year old
Frequency ➪ 1 per 5,000 births