Multiple congenital anomalies-hypotonia-seizures syndrome

Multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS) is a rare genetic disorder that affects multiple body systems from birth. Babies born with this condition typically have low muscle tone (hypotonia), meaning their muscles feel floppy and weak. They also experience seizures that often begin in the first days or weeks of life. In addition, affected children are born with several physical differences (congenital anomalies) that can involve the brain, heart, kidneys, and other organs. There are several subtypes of MCAHS, each caused by changes in different genes involved in a process called glycosylphosphatidylinositol (GPI) anchor biosynthesis. GPI anchors are molecules that attach important proteins to the surface of cells. When this process does not work properly, many body systems can be affected. Children with MCAHS often have intellectual disability, developmental delays, and distinctive facial features. There is currently no cure for MCAHS. Treatment focuses on managing symptoms, including controlling seizures with anti-epileptic medications, providing physical and occupational therapy for low muscle tone, and addressing any organ-specific problems such as heart defects. A team of specialists is usually needed to provide comprehensive care. The severity of the condition varies, but many affected individuals require lifelong support and medical attention.

Bring these to your next appointment

• Q1.Which specific gene is affected in my child, and what does that mean for their particular form of the condition?,What seizure medications do you recommend, and what side effects should I watch for?,How often should my child have follow-up testing for heart, kidney, and brain health?,What therapies (physical, occupational, speech) should we start, and how often?,Are there any clinical trials or experimental treatments available for this condition?,What is the recurrence risk if we plan to have more children, and is prenatal testing available?,What emergency plan should we have in place for prolonged seizures?

Common questions about Multiple congenital anomalies-hypotonia-seizures syndrome