Overview
Intellectual disability-microcephaly-unusual facies syndrome is an extremely rare genetic condition that was previously listed in medical databases but has since been marked as obsolete, meaning it may have been reclassified, merged with another diagnosis, or better understood under a different name. The condition was originally described as a combination of intellectual disability (difficulty with learning and reasoning), microcephaly (a smaller-than-expected head size), and unusual facial features. These features together suggested a distinct syndrome, but as genetic knowledge advanced, the condition may have been found to overlap with other known syndromes. Because this entry is now considered obsolete in Orphanet, patients or families who were given this diagnosis in the past should work with a clinical geneticist to determine whether a more current and specific diagnosis applies. Modern genetic testing tools, such as whole exome or whole genome sequencing, can often identify the exact genetic cause behind the combination of intellectual disability, microcephaly, and distinctive facial features. Getting an updated diagnosis is important because it can guide treatment, connect families with the right support groups, and provide more accurate information about what to expect. There is no single cure for conditions involving intellectual disability and microcephaly. Treatment is generally supportive and focuses on maximizing each person's abilities through early intervention, special education, speech therapy, occupational therapy, and physical therapy. Managing any associated medical problems, such as seizures, is also an important part of care.
Also known as:
Key symptoms:
Intellectual disability or learning difficultiesSmaller-than-normal head size (microcephaly)Unusual facial featuresDelayed speech and language developmentDelayed motor milestones such as sitting and walkingPossible seizuresShort stature or growth delaysBehavioral challengesDifficulty with daily living skills
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome at this time.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Intellectual disability-microcephaly-unusual facies 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 OBSOLETE: Intellectual disability-microcephaly-unusual facies 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.Is there a more current or specific diagnosis that applies to my child based on modern genetic testing?,What genetic tests should we pursue to get a more precise diagnosis?,What therapies and early intervention services do you recommend?,Are there any clinical trials or research studies we should consider?,What should I watch for that would require emergency medical attention?,How will this condition affect my child's learning and development over time?,Can you connect us with a genetic counselor to discuss family planning implications?
Common questions about OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome
What is OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome?
Intellectual disability-microcephaly-unusual facies syndrome is an extremely rare genetic condition that was previously listed in medical databases but has since been marked as obsolete, meaning it may have been reclassified, merged with another diagnosis, or better understood under a different name. The condition was originally described as a combination of intellectual disability (difficulty with learning and reasoning), microcephaly (a smaller-than-expected head size), and unusual facial features. These features together suggested a distinct syndrome, but as genetic knowledge advanced, the
At what age does OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome typically begin?
Typical onset of OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome is neonatal. Age of onset can vary across affected individuals.