Living with Macrocephaly-autism syndrome
A rare genetic condition with a large head, distinct facial features, developmental delay, and autism.
Understanding Macrocephaly-autism syndrome
Delayed development leads to intellectual disability and autism spectrum disorder. Facial features may include a prominent forehead, wide-set eyes, a flat midface, a low nasal bridge, and a long space between nose and lip. It begins in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Larger than usual head (macrocephaly)
- Intellectual disability
- Autistic behavior
- Delayed speech and language
- Delayed motor skills
- Distinct facial features
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.
- 3Consider genetic testing
Changes in PTEN 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); 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 Organization for Autism Research
- 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
It is caused by changes in the PTEN gene. A person can have it after inheriting one changed copy of the gene (autosomal dominant).
Also known as: macrocephaly-intellectual disability-autism syndrome; macrocephaly/autism syndrome
Patient organizations
- Organization for Autism ResearchMacrocephaly-autism syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Macrocephaly-autism syndrome.
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