Living with Macrocephaly-developmental delay syndrome
A rare inherited condition with a large head, delayed development, mild facial differences, and seizures, starting at birth.
Understanding Macrocephaly-developmental delay syndrome
People have mild facial differences, delays in overall development, and behavior changes such as anxiety and repeated movements. Some have seizures. Some also have early closing of skull bones, recurrent pneumonia, or an enlarged liver and spleen. It begins in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Larger than usual head (macrocephaly)
- Intellectual disability
- Delayed walking
- Delayed speech and language
- Anxiety
- Repetitive movements
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 KPTN 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 KPTN Alliance
- 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 KPTN gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: intellectual developmental disorder, autosomal recessive 41; intellectual disability, autosomal recessive type 41
Patient organizations
- KPTN AllianceMacrocephaly-developmental delay syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Macrocephaly-developmental delay syndrome.
Explore research for Macrocephaly-developmental delay syndrome
Explore actively recruiting Macrocephaly-developmental delay syndrome studies with HealthSpark.
Find actively recruiting studies for Macrocephaly-developmental delay syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Macrocephaly-developmental delay syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Macrocephaly-developmental delay syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Macrocephaly-developmental delay syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.