Living with Multiple congenital anomalies-hypotonia-seizures syndrome 3
A rare condition affecting how the body makes certain proteins, with low muscle tone, seizures, vision problems, and severe developmental delay.
Understanding Multiple congenital anomalies-hypotonia-seizures syndrome 3
Features include low muscle tone in newborns, global developmental delay, loss of skills, and severe to profound intellectual disability. Seizures start in infancy and are first linked with fevers. People may have impaired vision, bone differences, and certain facial features. Heart and kidney or urinary tract differences can also occur. Signs begin in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone in infancy
- Seizures of several types
- Severe intellectual disability
- Vision problems, including eyes that turn and cerebral visual impairment
- Hearing impairment
- Bone differences, such as funnel chest and delayed bone age
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 bone and joint specialists, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in PIGT 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
CDG CARE and World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: CDG CARE, World Craniofacial 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 CDG CARE and other patient organizations
- 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 PIGT gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: congenital disorder of glycosylation due to pigt deficiency; glycosylphosphatidylinositol biosynthesis defect 7; intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome; lfss; light fixation seizure syndrome; mcahs type 3
Patient organizations
- CDG CAREMultiple congenital anomalies-hypotonia-seizures syndrome 3 · United States
- CDG & Allies - PPAINMultiple congenital anomalies-hypotonia-seizures syndrome 3 · World Craniofacial Foundation
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
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