Edward's syndrome

Edward’s syndrome

Edward’s syndrome was named after Dr. John Edward
Also called Trisomy 18. It is a form of rare genetic disorder where a portion of a person’s chromosome 18 is duplicated. Children with the syndrome inherit three instead of two, copies of chromosome eighteen.

The majority of people with the syndrome die during the foetal stage. Infants who survive experience serious defects and commonly live for short periods of time. Approximately 5-10% of children with Edward’s syndrome survive beyond their first year of life and these have severe developmental disabilities.

The syndrome occurs in about 1 in 5000 births. Edward’s syndrome affects more boys than girls. Women older than the age of thirty have a greater risk of bearing a child with the syndrome.

Ninety-five percent of children with Edward’s syndrome have what is referred to as, ‘full-trisomies,’ while two-percent are due to translocations where only a portion of an extra chromosome is present. Three-percent of children with Edward’s syndrome have what is referred to as, ‘mosaic tristomies,’ where the extra chromosome is there, but not in every one of the child’s cells.

Most cases of trisomy 18 are not inherited, but occur as random events during the formation of eggs and sperm. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes.

Symptoms

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Majority die during the foetal stage.

  • Heads are unusually small, while the back of their head is prominent. Their ears are low-set and malformed, and their mouths and jaws are small.
  • Hands are often clenched into fists, with their index finger overlapping their other fingers.
  • Feet may be clubfeet, as well as toes that may be fused or webbed.
  • Many types of congenital heart disease like atrial septic defect, ventricular septal defect, or patent ductus arteriosus may be present.
  • Inguinal or umbilical hernia, abnormalities of their urogenital system, malformed kidneys, or undescended testicles in males may be seen.
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This entry was posted in Diseases & Conditions, Genetics and tagged , by Manbir & Gurpreet. Bookmark the permalink.

About Manbir & Gurpreet

Gurpreet Kaur’s journey in this world .... Gurpreet Kaur was a Musician. She was a singer and a composer of music. Her interest was composing and singing Gurbani Shabads in Indian Classical style. She sang Shabads in All the Raags mentioned in Sri Guru Granth Sahib Ji. She also taught Gurmat Sangeet at Gurmat Gian Missionary College, Jawadi, Ludhiana. Elder child to Pushpinder Kaur and Dr. Brig. Harminder Singh, was born in Amritsar on 13th Jan 1962. She attended various convent schools as a child because her father would get frequent Army postings as a dental surgeon. She graduated with Music Honors from Govt. College for Women, Chandigarh. Music was her hobby and she composed and sang Raag based Gurbani Shabads. Doing Kirtan was part of growing up nurtured by her parents. She learned music from her father Dr. Brigadier Harminder Singh who was a dental surgeon in Indian Army and a very good singer himself. Gurpreet’s Bhua (father’s sister), Ajit Kaur retied as a Head of Department of Music from Govt. College for Women Ludhiana, and was a renounced Punjabi singer of her time. Gurpreet Kaur also learned nuances of Indian Classical Music from Pandita Sharma. She was a mother of three children, and a grandmother. Her daughter Keerat Kaur is a Computer Engineer. Her two sons Gurkeerat Singh and Jaskeerat Singh are doctors in USA. Her daughter Keerat Kaur too was part of her group ~ Gurmat Gian Group. Gurpreet Kaur left this world at the age of 54yrs on 12th Sept 2016 in Baltimore USA. She had recorded around 25 cds of Gurbani Keertan. 'Raag Ratan' Album (6 CDs) is a Compilation of Shabads in All the 31 Sudh Raags of Sri Guru Granth Sahib Ji. 'Gauri Sagar' Album (3 CDs) is a Compilation of All forms of Raag Gauri in Sri Guru Granth Sahib Ji. 'Nanak Ki Malhaar' ~ ((3 CDs) is an album of Raag Malhar Shabads in various forms of Malhar. 'Gur Parsaad Basant Bana' ~ (3 CDs) is an album of Shabads in Raag Basant sung in various forms of Raag Basant. Har Ki Vadeyai Sarni Aayea Sewa Priya Kee Preet Piyaree Mohan Ghar Aavho Karo Jodariya Mo Kao Taar Le Raama Taar Le Tere Kavan Kavan Gun Keh Keh Gawan Mera Baid Guru Govinda Saajanrraa Mera Saajanrraa

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