Overview
Macrocephaly-developmental delay syndrome is a rare genetic condition characterized by an unusually large head size (macrocephaly) combined with delays in reaching developmental milestones such as sitting, walking, and talking. The condition is present from birth or early infancy and belongs to a group of disorders that affect brain growth and development. Children with this syndrome typically have a head circumference that is significantly larger than average for their age and sex. Along with the large head, affected individuals often experience intellectual disability of varying degrees, delayed speech and language development, and delays in motor skills like crawling and walking. Some children may also have distinctive facial features, low muscle tone (hypotonia), and behavioral challenges. Seizures can occur in some cases. The treatment landscape for macrocephaly-developmental delay syndrome is primarily supportive and symptom-based. There is currently no cure for the condition. Early intervention programs including speech therapy, occupational therapy, and physical therapy can help children reach their fullest potential. Regular monitoring by a team of specialists is important to track development and address any complications as they arise. Some children may benefit from special education services and behavioral support programs.
Key symptoms:
Unusually large head sizeDelayed speech and language developmentDelayed motor milestones like walking and sittingIntellectual disabilityLow muscle toneLearning difficultiesDistinctive facial featuresSeizures in some casesBehavioral challengesPoor coordinationFeeding difficulties in infancyTall stature or overgrowth in some cases
Clinical phenotype terms (26)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Macrocephaly-developmental delay syndrome.
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Specialists
View all specialists →No specialists are currently listed for Macrocephaly-developmental delay 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 Macrocephaly-developmental delay 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 is the specific genetic cause of my child's condition, and what does it mean for their future?,What therapies and early intervention services do you recommend starting right away?,Should we be concerned about seizures, and what signs should we watch for?,How often should my child's head size and brain be monitored with imaging?,Are there any clinical trials or new treatments being studied for this condition?,What is the chance that future children could also be affected?,What educational supports and accommodations should we request for school?
Common questions about Macrocephaly-developmental delay syndrome
What is Macrocephaly-developmental delay syndrome?
Macrocephaly-developmental delay syndrome is a rare genetic condition characterized by an unusually large head size (macrocephaly) combined with delays in reaching developmental milestones such as sitting, walking, and talking. The condition is present from birth or early infancy and belongs to a group of disorders that affect brain growth and development. Children with this syndrome typically have a head circumference that is significantly larger than average for their age and sex. Along with the large head, affected individuals often experience intellectual disability of varying degrees, de
At what age does Macrocephaly-developmental delay syndrome typically begin?
Typical onset of Macrocephaly-developmental delay syndrome is infantile. Age of onset can vary across affected individuals.