Living with Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
A rare genetic condition with a small head, developmental delay, hearing loss, seizures, and unusual muscle tone.
Understanding Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
People have a small head (microcephaly), global developmental delay, intellectual disability, abnormal muscle tone, and hearing loss from the inner ear. Some also have epilepsy, vision problems from the brain, digestive issues, slow growth, scoliosis, immune problems, or low platelets. Brain scans may show brain shrinkage, a thin corpus callosum, or reduced myelin (the coating on nerves).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Smaller-than-average head size (microcephaly)
- Delays in reaching developmental milestones
- Absent speech
- Seizures of several types
- Hearing loss from inner ear changes
- Muscle stiffness (spasticity) or low muscle tone
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, ear, nose, and throat specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in AFG2A are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 AFG2A gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; microcephaly, intellectual disability, sensorineural deafness, epilepsy, abnormal muscle tone syndrome; microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome; nedhsb; neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities
Patient organizations
Rare-disease groups that can help
- 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 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome.
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