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Disease at a Glance

Summary
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 (MCAHS2) is a genetic neurodevelopmental disorder characterized by distinctive facial features, low muscle tone (hypotonia) at birth, myoclonic seizures (which cause jerks or twitches of the upper body, arms, or legs), and various other problems involving the central nervous system, heart, and urinary system. Specific symptoms (especially those not involving the nervous system) and severity vary from person to person, but most children develop severe developmental delay and intellectual disability. This condition is caused by genetic changes in the PIGA gene on the X chromosome and inheritance is X-linked recessive, so it typically affects boys. However, in some cases, MCAHS2 is not inherited from a parent and is the result of a new genetic change occurring for the first time in a person with MCAHS2 (a de novo genetic change).
Summary
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 (MCAHS2) is a genetic neurodevelopmental disorder characterized by distinctive facial features, low muscle tone (hypotonia) at birth, myoclonic seizures (which cause jerks or twitches of the upper body, arms, or legs), and various other problems involving the central nervous system, heart, and urinary system. Specific symptoms (especially those not involving the nervous system) and severity vary from person to person, but most children develop severe developmental delay and intellectual disability. This condition is caused by genetic changes in the PIGA gene on the X chromosome and inheritance is X-linked recessive, so it typically affects boys. However, in some cases, MCAHS2 is not inherited from a parent and is the result of a new genetic change occurring for the first time in a person with MCAHS2 (a de novo genetic change).
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Resource(s) for Medical Professionals and Scientists on This Disease:

About Multiple congenital anomalies-hypotonia-seizures syndrome type 2

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 thisdisease.
  • Symptoms:May start to appear during Pregnancy, at Birth, and as an Infant.
  • Cause:This disease is caused by a change in the genetic material (DNA).
  • Organizations:Patient organizations are available to help find a specialist, or advocacy and support for this specific disease.
  • Categories:Inherited Metabolic DiseasesBirth DefectsGenetic DiseasesNeurological Diseases
When Do Symptoms of Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Begin?
Symptoms of this disease may start to appear during Pregnancy, at Birth, and as an Infant.

The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms of some diseases may begin at any age. Knowing when symptoms may have appeared can help medical providers find the correct diagnosis.
Prenatal Selected
Before Birth
Newborn Selected
Birth-4 weeks
Infant Selected
1-23 months
Child
2-11 years
Adolescent
12-18 years
Adult
19-65 years
Older Adult
65+ years
Symptoms may start to appear during Pregnancy, at Birth, and as an Infant.

Symptoms

This section is currently in development. 

Causes

What Causes This Disease?

Genetic Mutations

Can This Disease Be Passed Down From Parent to Child?

X-Linked

Find Your Community

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.

View GARD's criteria for including patient organizations, which can be found under the FAQs on our About page. Request an update or to have your organization added to GARD

Patient Organizations

6 Organizations

Organization Name

Who They Serve

Helpful Links

Country

People With

Multiple congenital anomalies-hypotonia-seizures syndrome type 2

Helpful Links
Country

United Kingdom

People With

Multiple congenital anomalies-hypotonia-seizures syndrome type 2

Country

United States

People With

Rare Diseases

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United States

People With

Rare Diseases

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United States

People With

Rare Diseases

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United States

People With

Rare Diseases

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United States

Participating in Clinical Studies

Clinical studies are part of clinical research and play an important role in medical advances, including for rare diseases. Through clinical studies, researchers may ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases.

What Are 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 clinical trials from this U.S. Food & Drug Administration webpage.

Why Participate in Clinical Studies?

What if There Are No Available Clinical Studies?

Join the All of Us Research Program!

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 clinical trials from this U.S. Food & Drug Administration webpage.
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Why Participate in Clinical Studies?

People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.

To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.
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What if There Are No Available Clinical Studies?

Join the All of Us Research Program!

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.
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies. 
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
Use the contact form to send your questions to a GARD Information Specialist.

Please allow 2 to 10 business days for us to respond.
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.
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies. 
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
Use the contact form to send your questions to a GARD Information Specialist.

Please allow 2 to 10 business days for us to respond.
Getting a Diagnosis

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

Last Updated: September 2024