Living with Multiple congenital anomalies-hypotonia-seizures syndrome 2
A genetic condition that mostly affects boys, with distinctive facial features, low muscle tone, seizures, and severe developmental delay.
Understanding Multiple congenital anomalies-hypotonia-seizures syndrome 2
Features include distinctive facial features, low muscle tone at birth, and myoclonic seizures (jerks or twitches of the upper body, arms, or legs). Other problems can involve the brain, heart, and urinary system. Symptoms and severity vary, but most children have severe developmental delay and intellectual disability. Signs are seen during pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone at birth (hypotonia)
- Myoclonic seizures
- Severe developmental delay
- Absent speech
- Differences in brain white matter
- Heart differences, such as a hole between the upper chambers
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in PIGA are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Epilepsy Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by changes in the PIGA gene on the X chromosome. It is X-linked recessive, so it typically affects boys. In some cases it results from a new gene change that was not inherited from a parent.
Also known as: dee20; developmental and epileptic encephalopathy 20; epileptic encephalopathy, early infantile, 20; glycosylphosphatidylinositol biosynthesis defect 4; gpibd4; mcahs type 2
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Multiple congenital anomalies-hypotonia-seizures syndrome 2.
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