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

• Deletion 7p Syndrome
• Monosomy 7p Syndrome
• Partial Monosomy 7p Syndrome

What is Chromosome 7p Deletion Syndrome? (Definition/Background Information)

• Chromosome 7p Deletion Syndrome is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7
• The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved
• Features that often occur in people with Chromosome 7p Deletion Syndrome include developmental delay, intellectual disability, behavioral problems, and distinctive facial features
• Most cases are not inherited, but people can pass the deletion on to their children
• Treatment is based on the signs and symptoms present in each person

(Source: Chromosome 7p Deletion Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Chromosome 7p Deletion Syndrome? (Age and Sex Distribution)

• Chromosome 7p Deletion Syndrome is a rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Chromosome 7p Deletion Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Chromosome 7p Deletion Syndrome can be inherited
• Currently, no other risk factors have been clearly identified for the syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Chromosome 7p Deletion Syndrome? (Etiology)

• Chromosome 7p Deletion Syndrome is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7
• Most cases are not inherited, but people can pass the deletion on to their children

(Source: Chromosome 7p Deletion Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

What are the Signs and Symptoms of Chromosome 7p Deletion Syndrome?

• Features that often occur in people with the syndrome include developmental delay, intellectual disability, behavioral problems, and distinctive facial features

(Source: Chromosome 7p Deletion Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Chromosome 7p Deletion Syndrome Diagnosed?

Chromosome 7p Deletion Syndrome is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Chromosome 7p Deletion Syndrome?

The complications of Chromosome 7p Deletion Syndrome may include:

• Intellectual impairment
• Reduced quality of life

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Chromosome 7p Deletion Syndrome Treated?

There is no cure for Chromosome 7p Deletion Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Chromosome 7p Deletion Syndrome be Prevented?

Currently, Chromosome 7p Deletion Syndrome may not be preventable, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Chromosome 7p Deletion Syndrome? (Outcomes/Resolutions) 

• The prognosis of Chromosome 7p Deletion Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Chromosome 7p Deletion Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/