Overview
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome is an extremely rare genetic condition that affects brain development and the nervous system. The name describes its main features: microcephaly (a smaller-than-expected head size), intellectual disability, hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss), seizures (epilepsy), and problems with muscle tone that can include muscles being too stiff or too floppy. This condition is present from birth or early infancy. Because the brain does not develop to its full size, children with this syndrome typically experience delays in reaching developmental milestones such as sitting, walking, and talking. The hearing loss can range from mild to severe and may further affect speech and language development. Seizures can vary in type and severity and often require ongoing medication to manage. Abnormal muscle tone can affect movement, posture, and coordination. There is currently no cure for this syndrome. Treatment focuses on managing individual symptoms. This may include anti-seizure medications, hearing aids or cochlear implants, physical therapy for muscle tone issues, speech therapy, and special education support. A team of specialists working together provides the best care for affected individuals.
Also known as:
Key symptoms:
Smaller than normal head size (microcephaly)Intellectual disabilityHearing loss due to nerve damage in the inner earSeizures or epilepsyAbnormal muscle tone (too stiff or too floppy)Delayed developmental milestonesDifficulty with speech and languageProblems with coordination and movementLearning difficultiesDelayed motor skills such as sitting and walkingFeeding difficulties in infancyPoor balance
Clinical phenotype terms (50)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome.
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Specialists
View all specialists →No specialists are currently listed for Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome.
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 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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.What genetic testing should be done to confirm the diagnosis and identify the specific gene involved?,What seizure medications are best for my child, and what side effects should I watch for?,How severe is the hearing loss, and would hearing aids or cochlear implants be helpful?,What therapies (physical, occupational, speech) should we start, and how often?,What is the expected developmental trajectory for my child?,Are there any clinical trials or research studies we could participate in?,Should other family members be tested for this genetic condition?
Common questions about Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
What is Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome?
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome is an extremely rare genetic condition that affects brain development and the nervous system. The name describes its main features: microcephaly (a smaller-than-expected head size), intellectual disability, hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss), seizures (epilepsy), and problems with muscle tone that can include muscles being too stiff or too floppy. This condition is present from birth or early infancy. Because the brain does not develop to its fu
How is Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome inherited?
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome typically begin?
Typical onset of Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome is neonatal. Age of onset can vary across affected individuals.