Overview
Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome is an extremely rare genetic condition that affects brain development and movement. The name describes its main features: microbrachycephaly (an unusually small head that is also short from front to back), intellectual disability, and athetoid cerebral palsy (a type of movement disorder with slow, involuntary writhing movements). This syndrome is sometimes referred to by its Orphanet designation number 1236. Children born with this condition typically have a noticeably small head at birth or in early infancy, which reflects underdevelopment of the brain (microcephaly). The intellectual disability is usually severe, meaning affected individuals have significant challenges with learning, communication, and daily functioning. The athetoid cerebral palsy component causes uncontrolled, twisting movements of the arms, legs, and sometimes the face, making voluntary movement very difficult. There is currently no cure for this syndrome. Treatment focuses on managing symptoms and improving quality of life. This may include physical therapy to help with movement, occupational therapy for daily tasks, speech therapy for communication difficulties, and medications to help control abnormal movements or muscle tone. A team of specialists is typically needed to provide comprehensive care. Because this condition is so rare, much of the medical knowledge comes from a very small number of reported cases in the medical literature.
Key symptoms:
Very small head size (microcephaly)Head that is short from front to back (brachycephaly)Severe intellectual disabilityInvoluntary writhing movements (athetosis)Difficulty controlling voluntary movementsDelayed developmental milestonesDifficulty with speech and communicationProblems with coordination and balanceAbnormal muscle toneFeeding difficultiesSeizures may occurShort statureLimited ability to walk independently
Clinical phenotype terms (32)— 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 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome.
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Specialists
View all specialists →No specialists are currently listed for Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy 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 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy 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
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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 therapies are most important to start right away for my child?,Are there any medications that could help control the involuntary movements?,Should we pursue genetic testing, and what might the results tell us?,What feeding strategies can help reduce the risk of choking or aspiration?,How can we best monitor for and manage seizures?,What educational and developmental support services should we look into?,Are there any clinical trials or research studies we should know about?
Common questions about Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
What is Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome?
Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome is an extremely rare genetic condition that affects brain development and movement. The name describes its main features: microbrachycephaly (an unusually small head that is also short from front to back), intellectual disability, and athetoid cerebral palsy (a type of movement disorder with slow, involuntary writhing movements). This syndrome is sometimes referred to by its Orphanet designation number 1236. Children born with this condition typically have a noticeably small head at birth or in early infancy, w
How is Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome inherited?
Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome typically begin?
Typical onset of Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome is neonatal. Age of onset can vary across affected individuals.