Disease at a Glance

Summary
A rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar synostosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males.
Resource(s) for Medical Professionals and Scientists on This Disease:
This section is currently in development.

About 48,XYYY

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

  • Population Estimate:Fewer than 1,000 people in the U.S. have this disease.
  • Symptoms:This section is currently in development.
  • Cause:This is caused by changes in the way information is arranged into chromosomes.
  • Organizations:GARD is not currently aware of organizations specific to this condition.
  • Categories:Urogenital DisorderNeurological DiseaseBirth DefectGenetic Disease
When Do Symptoms of 48,XYYY Begin?
This section is currently in development. 

Symptoms

The number and severity of symptoms experienced may differ among people with this disease. Your experience may be different from others, and you should consult your primary care provider for more information.

This list is not all-inclusive, but the following symptoms have been linked to this disease:
Skin System Skin System

31 Symptoms

Tile View
List View
Tile View
List View

Skin System

The skin or integumentary system is made up of skin, hair, nails, sweat glands, and oil glands. Common symptoms of problems in the skin system include redness, swelling, burning, itching, rashes, and hives. Skin diseases are often diagnosed and treated by dermatologists. Other specialists may also be involved including rheumatologists, allergists, and infectious disease doctors.
Medical Term

Abnormal dermatoglyphics

Frequency
Uncommon
Very frequent
Very frequent
Always
Description

An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.

An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.

Synonym

Dermatoglyphic abnormalities

Dermatoglyphic abnormalities

31 Symptoms
This information comes from the Human Phenotype Ontology (HPO)

Causes

Chromosome Disorder

48,XYYY is a chromosome disorder, which means it is caused by changes in the way information is arranged into chromosomes.

What Are Chromosome Disorders?

A chromosome disorder occurs when there is a change in the number, size, or structure of the chromosomes. A numerical abnormality involves a missing or extra chromosome from the chromosome pair. A structural abnormality involves an alteration to the chromosome's structure. This change in the amount or structure of material can result in problems with growth and development.

Chromosome changes can be inherited from a parent or can happen by chance for the first time in a baby (de novo). An error called nondisjunction causes chromosomes to be separated and distributed unequally into new cells. As a result, some cells have too many chromosomes and other cells have too few. If the original egg cell or sperm cell has too many or too few chromosomes, then all the cells in the body will have the incorrect number of chromosomes.  If another cell later in development gains or loses a chromosome, then only some of the cells in the body will have the incorrect number of chromosomes.

Sources to Learn More: Chromosome Abnormalities Fact Sheet (NHGRI); Are Chromosomal Disorders Inherited? (MedlinePlus)A chromosome disorder occurs when there is a change in the number, size, or structure of the chromosomes. A numerical abnormality involves a missing or extra chromosome from the chromosome pair. A structural abnormality involves an alteration to the chromosome's structure. This change in the amount or structure of material can result in problems with growth and development.

Chromosome changes can be inherited from a parent or can happen by chance for the first time in a baby (de novo). An error called nondisjunction causes chromosomes to be separated and distributed unequally into new cells. As a result, some cells have too many chromosomes and other cells have too few. If the original egg cell or sperm cell has too many or too few chromosomes, then all the cells in the body will have the incorrect number of chromosomes.  If another cell later in development gains or loses a chromosome, then only some of the cells in the body will have the incorrect number of chromosomes.

Sources to Learn More: Chromosome Abnormalities Fact Sheet (NHGRI); Are Chromosomal Disorders Inherited? (MedlinePlus)
Read More

Advocacy and Support Groups

How Can Patient Organizations Help?

Patient organizations can help patients and families connect. They build public awareness of the disease and are a driving force behind research to improve patients' lives. They may offer online and in-person resources to help people live well with their disease. Many collaborate with medical experts and researchers.

Services of patient organizations differ, but may include:

  • Ways to connect to others and share personal stories
  • Easy-to-read information
  • Up-to-date treatment and research information
  • Patient registries
  • Lists of specialists or specialty centers
  • Financial aid and travel resources

Please note: GARD provides organizations for informational purposes only and not as an endorsement of their services. Please contact an organization directly if you have questions about the information or resources it provides.

Patient Organizations

4 Organizations

Organization Name

Who They Serve

Helpful Links

Country

EveryLife Foundation for Rare Diseases
People With

Rare Diseases

Helpful Links
Country

United States

Genetic Alliance
People With

Rare Diseases

Helpful Links
Country

United States

Global Genes
People With

Rare Diseases

Helpful Links
Country

United States

National Organization for Rare Disorders
People With

Rare Diseases

Helpful Links
Country

United States

Participating in Clinical Studies

Clinical studies are part of clinical research and at the heart of all medical advances, including rare diseases. Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases.

What Are Clinical Studies?

Clinical studies are medical research involving people as participants. There are two main types of clinical studies:

  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about the different types of clinical studies, consent forms, questions you should ask before participating in clinical studies, and the difference between research and medical treatment.

Why Participate in Clinical Studies?

People participate in clinical trials for a variety of reasons. Participants with a disease may participate to help others, but also to possibly receive the newest treatment and additional care from clinical study staff. Healthy volunteers may also participate to help others and to contribute to moving science forward.

How Do You Find the Right Clinical Study?

To find the right clinical study we recommend you:

  • Use ClincalTrials.gov button below to search for studies by disease, terms, or country.
  • Consult doctors, other trusted medical professionals, and patient organizations.
  • Enroll in databases to allow researchers from participating institutions to find you.

What if There Are No Available Clinical Studies?

ResearchMatch helps connect people interested in research studies with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.

What Are Clinical Studies?

Clinical studies are medical research involving people as participants. There are two main types of clinical studies:

  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about the different types of clinical studies, consent forms, questions you should ask before participating in clinical studies, and the difference between research and medical treatment.

Why Participate in Clinical Studies?

People participate in clinical trials for a variety of reasons. Participants with a disease may participate to help others, but also to possibly receive the newest treatment and additional care from clinical study staff. Healthy volunteers may also participate to help others and to contribute to moving science forward.

How Do You Find the Right Clinical Study?

To find the right clinical study we recommend you:

  • Use ClincalTrials.gov button below to search for studies by disease, terms, or country.
  • Consult doctors, other trusted medical professionals, and patient organizations.
  • Enroll in databases to allow researchers from participating institutions to find you.

What if There Are No Available Clinical Studies?

ResearchMatch helps connect people interested in research studies with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.

ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Please contact GARD if you need help finding additional information or resources on rare diseases, including clinical studies. Our Information Specialists are available to you by phone or by filling out our contact form. Note, GARD cannot enroll individuals in clinical studies.
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Please contact GARD if you need help finding additional information or resources on rare diseases, including clinical studies. Our Information Specialists are available to you by phone or by filling out our contact form. Note, GARD cannot enroll individuals in clinical studies.

Learn about symptoms, cause, support, and research for a rare disease. 

Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care.

Find resources for patients and caregivers that address the challenges of living with a rare disease.

Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care.

Last Updated: February 2023