Living with Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
A very rare genetic condition that affects the head and face, movement and thinking.
Understanding Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
It changes the shape of the head and face and can cause trouble with movement and thinking. People may have a small head, sloping forehead, small or missing eyes, large ears and a cleft palate. They may also have trouble controlling their movements and have intellectual disability. It is present from birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head (microcephaly)
- Intellectual disability
- Trouble controlling movements
- Cleft palate
- Small eyeballs (microphthalmia)
- Crossed eyes (strabismus)
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
National Ataxia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: National Ataxia 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 United Cerebral Palsy 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
GARD says changes in genes cause this condition, but it doesn't list the gene or how it is inherited.
Also known as: severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
Patient organizations
- United Cerebral PalsySevere microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome · United States
- National Ataxia FoundationAtaxia · United States
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