What are the Symptoms of Edwards Syndrome?

Edwards syndrome, also known as Trisomy 18, is a rare genetic disorder caused by the presence of an extra copy of chromosome 18 in every cell of the body. This condition results in multiple severe birth defects and significant developmental challenges. Edwards syndrome is associated with a wide range of symptoms and health issues, which can include:

  • Growth Retardation: Affected individuals often have poor prenatal growth, leading to low birth weight and short stature.
  • Craniofacial Abnormalities: Facial features may include a small, abnormally shaped head (microcephaly), a small jaw (micrognathia), a prominent forehead, low-set ears, and clenched fists with overlapping fingers.
  • Congenital Heart Defects: Nearly all infants with Edwards syndrome have heart abnormalities, which can vary in type and severity. These defects often result in life-threatening cardiac problems.
  • Kidney Problems: Kidney malformations or abnormalities in kidney function can occur.
  • Respiratory Issues: Breathing difficulties may arise due to the underdevelopment of the chest and the presence of lung problems.
  • Feeding Difficulties: Babies with Edwards syndrome may have difficulty with sucking and swallowing, which can make feeding a challenge.
  • Muscle Weakness: Low muscle tone (hypotonia) is common, which can result in limited mobility and difficulties with motor skills.
  • Developmental Delay: Affected children often experience severe developmental delays and intellectual disabilities.
  • Gastrointestinal Problems: Gastrointestinal issues such as hernias, malrotation of the intestines, and problems with the esophagus may occur.
  • Skeletal Abnormalities: These can include clubfeet, rocker-bottom feet, and curved spine (scoliosis).
  • Eye and Ear Abnormalities: Vision and hearing problems may be present, such as cataracts or ear malformations.
  • Neurological Issues: Seizures, spasticity, and other neurological complications may develop.
  • Cleft Lip and Palate: Some infants with Edwards syndrome may have a cleft lip and/or palate.

Unfortunately, Edwards syndrome is associated with a high rate of stillbirth or neonatal death. Many affected babies do not survive beyond the first year of life. For those who do survive, their care often involves addressing the specific medical issues, providing supportive therapies, and improving their quality of life. Medical management and intervention are individualized based on the child’s unique needs and the severity of their symptoms.

It’s important to note that Edwards syndrome cannot be cured. Prenatal screening and diagnosis can provide information to parents and healthcare providers about the presence of this condition, which may help guide medical decisions and support for the family.

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