What are the other Names for this Condition? (Also known as/Synonyms)

• Chromosome 18 Disorders

What are Disorders of Chromosome 18? (Definition/Background Information)

There are many disorders that are caused by abnormalities on chromosomes 18. Some are more common than others. Researchers know more about certain chromosomal disorders than others. Information is constantly being added through research, better documentation, and increased awareness.

Chromosomes are microscopic protein structures present in each cell nucleus that carry genetic information in the form of DNA (deoxyribonucleic acid). Humans have 46 chromosomes in the cell nucleus, in 23 pairs, of which one pair is named the sex chromosome. In males, it is designated XY, for chromosome X and chromosome Y; while, in females, it is designated XX, for a pair of chromosome X. The other 22 pairs of chromosomes are numbered chromosome 1 through 22.

During conception, the embryo inherits one copy of each chromosome from each parent (i.e., mother and father). Any alteration in the chromosome numbers or structure can result in mild to severe genetic abnormalities. Specialized genetic testing techniques are often required to confirm the diagnosis.

Chromosome 18 Disorders are disorders involving chromosome 18. Some of the disorders include:

Chromosome 18p Deletion Syndrome: Chromosome 18p Deletion Syndrome is a genetic disorder caused by the loss of genetic material on the short arm of chromosome 18. It can result in various health issues, including congenital heart defects. Common signs and symptoms may include intellectual disability, developmental delays, growth problems, distinctive facial features, and abnormalities in the hands and feet. Treatment focuses on managing the specific symptoms and providing supportive care to address developmental, educational, and medical needs.

Chromosome 18q Deletions from 18q11.2 to 18q21.2: Chromosome 18q Deletions from 18q11.2 to 18q21.2 refer to genetic abnormalities involving the loss of genetic material on the long arm of chromosome 18 within the specified region. These deletions can lead to a range of health issues, but the specific association with congenital heart defects is unclear. Common symptoms may include intellectual disability, developmental delays, distinctive facial features, and structural abnormalities of the hands and feet. Treatment involves managing the specific symptoms and providing support for developmental, educational, and medical needs.

Chromosome 18q Deletions from 18q21 and beyond: Chromosome 18q Deletions from 18q21 and beyond refer to genetic abnormalities involving the loss of genetic material on the long arm of chromosome 18 beyond region 18q21. The specific association with congenital heart defects is uncertain. Common signs and symptoms can include intellectual disability, developmental delays, distinctive facial features, and structural abnormalities in various body systems. Treatment focuses on managing the specific symptoms and providing supportive care for developmental and medical needs, tailored to the individual's requirements.

GATA6 Syndrome: GATA6 Syndrome is a genetic disorder caused by mutations in the GATA6 gene. It is associated with various health issues, including congenital heart defects. Common symptoms may include developmental delays, intellectual disability, gastrointestinal abnormalities, and structural heart defects. Treatment focuses on managing the specific symptoms and providing supportive care to address developmental, educational, and medical needs.

Chromosome 18p Tetrasomy Syndrome: Chromosome 18p Tetrasomy Syndrome is a genetic condition characterized by the presence of an extra copy of genetic material on the short arm of chromosome 18. It can result in a range of health problems, including congenital heart defects. Common signs and symptoms may include intellectual disability, developmental delays, distinctive facial features, and abnormalities in the hands and feet. Treatment involves managing the specific symptoms and providing supportive care tailored to the individual's needs.

Ring Chromosome 18 Syndrome: Ring Chromosome 18 Syndrome is a rare genetic disorder characterized by a ring-shaped chromosome 18. It can lead to various health issues, including congenital heart defects. Common signs and symptoms may include developmental delays, intellectual disability, growth and feeding difficulties, distinctive facial features, and skeletal abnormalities. Treatment involves managing the specific symptoms and providing supportive care to address developmental, educational, and medical needs.

Trisomy 18 Syndrome: Trisomy 18 Syndrome, also known as Edwards syndrome, is a chromosomal disorder caused by the presence of an extra copy of chromosome 18. It is associated with multiple congenital abnormalities, including severe congenital heart defects. Common signs and symptoms may include intellectual disability, growth retardation, distinctive facial features, clenched fists, and organ malformations. Treatment focuses on supportive care to manage the medical and developmental challenges associated with the syndrome.

This article is a resource with links to other more specific disorders. Information on each Chromosome 18 Disorder may be viewed by clicking on the respective subtypes (above).

Information to join DoveMed’s patient forum called MyCIrcles to learn and manage the condition is also included. We are adding more information to this page periodically. Please bookmark this page for future reference and visit for updated content.

You can join Chromosome Disorders MyCircles patient forum by visiting here: https://www.dovemed.com/mycircles/circles/all