49,XXXXX syndrome

Other Names:

Summary

Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX).

Estimated Number of People with this Disease

This section is currently in development.

What Information Does GARD Have For This Disease?

Many rare diseases have limited information. Currently GARD is able to provide the following information for this disease:

*Data may be currently unavailable to GARD at this time.

When do symptoms of this disease begin?

The most common ages for symptoms of a disease to begin is called age of onset. Age of onset can vary for different diseases and may be used by a doctor to determine the diagnosis. For some diseases, symptoms may begin in a single age range or several age ranges. For other diseases, symptoms may begin any time during a person's life.

Prenatal

Before Birth

Newborn

Birth-4 weeks

Infant

1-23 months

Child

2-11 years

Adolescent

12-18 years

Adult

19-65 years

Older Adult

65+ years

The common ages for symptoms to begin in this disease are shown above by the colored icon(s).

These symptoms may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom.
This disease might cause these symptoms:

Cardiovascular System

22 Symptoms

Tile View

List View

The cardiovascular system is made up of the heart and blood vessels, including the arteries, veins, and capillaries. Common symptoms of problems in the cardiovascular system include high blood pressure, heart rate or heart rhythm problems, chest pain or discomfort, pain or tingling in the hands or feet, and fatigue. Diseases of the cardiovascular system may be diagnosed and treated by a cardiologist.

Medical Term

Abnormal cardiac septum morphology

Frequency: Occasional

Description

An anomaly of the intra-atrial or intraventricular septum.

Synonym

Septal defects

22 Symptoms

This section is currently in development.

Next Steps

Talking with the Medical Team

Good communication between the patient, family, and medical team can lead to an accurate diagnosis. In addition, health care decisions can be made together which improves the patient’s well-being and quality of life.

Describing Symptoms

Describe details about the symptoms. Because there may be many different causes for a single symptom, it is best not to make a conclusion about the diagnosis. The detailed descriptions help the medical provider determine the correct diagnosis.

To help describe a symptom:

Use a smartphone or a notebook to record each symptom before the appointment
Describe each symptom by answering the following questions:
- When did the symptom start?
- How often does it happen?
- Does anything make it better or worse?
Tell the medical team whether any symptoms affect daily activities

Preparing for the First Visit

Working with a medical team to find a diagnosis can be a long process that will require more than one appointment. Make better health decisions by being prepared for the first visit with each member of the medical team.

Make informed decisions about health care:

Prepare a list of questions and concerns before the appointment
List the most important questions first, not all questions may be answered in the first visit
Ask questions about symptoms, possible diagnoses, tests, and treatment options

For future appointments:

Discuss what was not addressed at the last visit
Discuss changes in the quality of life for the patient, family, and caregivers
Discuss health goals and other issues in the patient’s and family’s life that may affect the health care decisions

Take notes during the appointments to help remember what was discussed.

Next: Diagnosis & Treatment

Last Updated: Nov. 8, 2021