Overview
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 (MCAHS2) is a very rare genetic disorder that affects multiple body systems from birth. It is caused by changes (mutations) in the PIGA gene, which plays an important role in building certain molecules on the surface of cells called GPI-anchored proteins. These proteins are needed for many body functions, including brain development and organ formation. Babies born with MCAHS2 typically show low muscle tone (hypotonia) from birth, meaning their muscles feel floppy and weak. Seizures usually begin very early in life, often within the first days or weeks. Children with this condition also have multiple birth defects (congenital anomalies) that can affect the heart, kidneys, and other organs. Facial features may appear distinctive, and developmental delays are common and often severe. Many affected children have intellectual disability. There is currently no cure for MCAHS2. Treatment focuses on managing symptoms, particularly controlling seizures with anti-seizure medications, supporting feeding and nutrition, and providing physical and developmental therapies. The condition is serious, and a team of specialists is usually needed to provide the best possible care. Because MCAHS2 is so rare, research is still ongoing to better understand the disease and develop new treatments.
Also known as:
Key symptoms:
Low muscle tone (floppiness) from birthSeizures starting in the newborn periodIntellectual disabilityDelayed development and milestonesBirth defects of the heartKidney abnormalitiesDistinctive facial featuresFeeding difficultiesSmall head size (microcephaly)Abnormal movementsLiver problemsShort stature or poor growthVision problemsHearing lossJoint contractures or skeletal abnormalities
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Multiple congenital anomalies-hypotonia-seizures syndrome type 2.
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Specialists
View all specialists →No specialists are currently listed for Multiple congenital anomalies-hypotonia-seizures syndrome type 2.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Multiple congenital anomalies-hypotonia-seizures syndrome type 2.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's condition, and what organs are affected?,What seizure medications do you recommend, and what are the side effects?,What therapies (physical, occupational, speech) should we start, and how often?,Are there any clinical trials or research studies my child could participate in?,What emergency signs should I watch for, and when should I go to the emergency room?,How often should my child have follow-up testing for heart, kidney, and liver function?,Can you connect us with a genetic counselor to discuss family planning and recurrence risk?
Common questions about Multiple congenital anomalies-hypotonia-seizures syndrome type 2
What is Multiple congenital anomalies-hypotonia-seizures syndrome type 2?
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 (MCAHS2) is a very rare genetic disorder that affects multiple body systems from birth. It is caused by changes (mutations) in the PIGA gene, which plays an important role in building certain molecules on the surface of cells called GPI-anchored proteins. These proteins are needed for many body functions, including brain development and organ formation. Babies born with MCAHS2 typically show low muscle tone (hypotonia) from birth, meaning their muscles feel floppy and weak. Seizures usually begin very early in life, often within
How is Multiple congenital anomalies-hypotonia-seizures syndrome type 2 inherited?
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Multiple congenital anomalies-hypotonia-seizures syndrome type 2 typically begin?
Typical onset of Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is neonatal. Age of onset can vary across affected individuals.