Overview
Microcephaly-digital anomalies-intellectual disability syndrome is an extremely rare genetic condition that affects brain development, the hands and feet, and cognitive ability. The name describes its three main features: microcephaly (a head that is smaller than expected because the brain does not grow to its normal size), digital anomalies (differences in the fingers or toes, such as short fingers, curved fingers, or other structural changes), and intellectual disability (difficulty with learning, reasoning, and everyday problem-solving). Children with this condition are typically identified at birth or in early infancy because of the noticeably small head size and unusual appearance of the hands or feet. Developmental milestones such as sitting, walking, and talking are often delayed. The severity of intellectual disability can range from mild to severe. Some affected individuals may also have additional features such as short stature, distinctive facial features, or seizures. Because this syndrome is so rare, there is no specific cure or targeted treatment. Management focuses on supportive care, including early intervention therapies such as speech therapy, physical therapy, and occupational therapy to help children reach their fullest potential. Regular follow-up with multiple specialists is important to monitor growth, development, and any associated medical issues.
Also known as:
Key symptoms:
Abnormally small head size (microcephaly)Intellectual disabilityDelayed speech and language developmentDelayed motor milestones such as sitting and walkingShort or unusually shaped fingersCurved fingers (clinodactyly)Abnormalities of the toesShort statureDistinctive facial featuresSeizures in some casesLearning difficultiesBehavioral challenges
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 Microcephaly-digital anomalies-intellectual disability syndrome.
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Specialists
View all specialists →No specialists are currently listed for Microcephaly-digital anomalies-intellectual disability 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 Microcephaly-digital anomalies-intellectual disability 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 should we pursue further genetic testing?,What therapies should we start right away to support my child's development?,Is my child at risk for seizures, and what should I watch for?,Will the hand or foot differences need surgical treatment or special devices?,What kind of educational support will my child need as they grow?,Are there other family members who should be tested for this condition?,Are there any clinical trials or research studies we could participate in?
Common questions about Microcephaly-digital anomalies-intellectual disability syndrome
What is Microcephaly-digital anomalies-intellectual disability syndrome?
Microcephaly-digital anomalies-intellectual disability syndrome is an extremely rare genetic condition that affects brain development, the hands and feet, and cognitive ability. The name describes its three main features: microcephaly (a head that is smaller than expected because the brain does not grow to its normal size), digital anomalies (differences in the fingers or toes, such as short fingers, curved fingers, or other structural changes), and intellectual disability (difficulty with learning, reasoning, and everyday problem-solving). Children with this condition are typically identified
How is Microcephaly-digital anomalies-intellectual disability syndrome inherited?
Microcephaly-digital anomalies-intellectual disability syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Microcephaly-digital anomalies-intellectual disability syndrome typically begin?
Typical onset of Microcephaly-digital anomalies-intellectual disability syndrome is neonatal. Age of onset can vary across affected individuals.