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

• Chromosome 5 Disorders

What are Disorders of Chromosome 5? (Definition/Background Information)

There are many disorders that are caused by abnormalities on chromosomes 5. 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 5 Disorders are disorders involving Chromosome 5. Some of the disorders include:

Chromosome 5q Deletion Syndrome: Chromosome 5q Deletion Syndrome is a genetic disorder characterized by the deletion of genetic material on the long arm of chromosome 5, specifically at the 5q region. It can lead to a range of symptoms including developmental delays, intellectual disability, speech and language difficulties, growth abnormalities, distinctive facial features, and other medical issues. Treatment focuses on managing symptoms, providing supportive care, and addressing specific needs through therapy and interventions tailored to the individual's requirements.

Chromosome 5q Duplication Syndrome: Chromosome 5q Duplication Syndrome involves the presence of extra genetic material on the long arm of chromosome 5. This condition can result in developmental delays, intellectual disability, speech and language delays, behavioral challenges, physical abnormalities, and various health problems. Treatment typically involves early intervention programs, therapies to address developmental delays, and supportive care to manage associated symptoms.

Chromosome 5q14 Duplication Syndrome: Chromosome 5q14 Duplication Syndrome refers to a genetic disorder characterized by the duplication of genetic material on the long arm of chromosome 5, specifically at the 5q14 region. This duplication can lead to developmental delays, intellectual disability, speech and language difficulties, behavioral challenges, physical abnormalities, and other medical issues. Treatment involves managing symptoms, providing supportive care, and addressing specific needs through therapy and interventions tailored to the individual's requirements.

Chromosome 5q14.3 Deletion Syndrome: Chromosome 5q14.3 Deletion Syndrome is a rare genetic disorder caused by the deletion of genetic material on the long arm of chromosome 5, specifically at the 5q14.3 region. It can result in developmental delays, intellectual disability, speech and language difficulties, growth abnormalities, distinctive facial features, and other medical issues. Treatment focuses on managing symptoms, providing supportive care, and addressing specific needs through therapy and interventions tailored to the individual's requirements.

Chromosome 5q35 Duplication Syndrome: Chromosome 5q35 Duplication Syndrome is a genetic disorder characterized by the duplication of genetic material on the long arm of chromosome 5, specifically at the 5q35 region. This duplication can result in developmental delays, intellectual disability, speech and language difficulties, behavioral challenges, physical abnormalities, and various health problems. Treatment typically involves early intervention programs, therapies to address developmental delays, and supportive care to manage associated symptoms.

MEF2C Haploinsufficiency Syndrome: MEF2C Haploinsufficiency Syndrome is a rare genetic disorder caused by the haploinsufficiency of the MEF2C gene, meaning that an individual has only one functional copy of the gene instead of the usual two. It is characterized by developmental delays, intellectual disability, speech and language difficulties, seizures, and behavioral challenges. Treatment focuses on managing symptoms, providing supportive care, and addressing specific needs through therapy and interventions tailored to the individual's requirements.

PURA and Chromosome 5q31.3 Deletion Syndrome: PURA and Chromosome 5q31.3 Deletion Syndrome is a genetic disorder caused by the deletion of genetic material on chromosome 5, specifically at the 5q31.3 region, which includes the PURA gene. It is characterized by developmental delays, intellectual disability, seizures, abnormal muscle tone, feeding difficulties, and distinctive facial features. Treatment involves managing symptoms, providing supportive care, and addressing specific needs through therapy and interventions tailored to the individual's requirements.

Ring Chromosome 5 Syndrome: Ring Chromosome 5 Syndrome is a rare chromosomal disorder characterized by the presence of a ring-shaped chromosome 5. It can result in a range of symptoms and developmental challenges. The specific features and severity of the syndrome can vary among affected individuals. Treatment focuses on managing symptoms, providing supportive care, and addressing specific needs through therapy and interventions tailored to the individual's requirements.

This article is a resource with links to other more specific disorders. Information on each Chromosome 5 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