Overview
Intellectual disability-unusual facies syndrome (also sometimes referred to as unusual facies-intellectual disability syndrome) is an extremely rare genetic condition that was historically described in medical literature but has since been reclassified as 'obsolete' in the Orphanet database. This means that the condition may have been merged with another recognized diagnosis, reclassified under a different name, or found to overlap significantly with other known syndromes. The condition was originally characterized by intellectual disability (difficulty with learning, reasoning, and adaptive behavior) combined with distinctive facial features that differ from typical appearance. These facial features might include an unusual shape of the head, widely spaced eyes, a flat nasal bridge, or other differences in facial structure. Because this entry is now considered obsolete, patients who were previously given this diagnosis may benefit from updated genetic testing and clinical re-evaluation. Modern genetic tools such as whole exome sequencing or chromosomal microarray can often provide a more precise diagnosis. If you or a family member received this diagnosis in the past, it is strongly recommended to consult with a clinical geneticist who can review the case with current knowledge and technology. Treatment has generally been supportive, focusing on educational support, speech and occupational therapy, and management of any associated medical issues.
Also known as:
Key symptoms:
Intellectual disability or learning difficultiesUnusual facial featuresDelayed speech and language developmentDelayed motor milestones such as sitting or walkingBehavioral challengesPossible short stature or growth delaysPossible feeding difficulties in infancy
Variable
Can be inherited in different ways depending on the underlying gene
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Intellectual disability-unusual facies syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Intellectual disability-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-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 this diagnosis still considered accurate, or should we pursue updated genetic testing?,What modern genetic tests would you recommend to find a more specific diagnosis?,What therapies and early intervention services would benefit my child the most right now?,Are there any associated medical problems we should screen for, such as heart or vision issues?,What is the expected developmental trajectory, and how can we best support progress?,Are there any clinical trials or research studies that might be relevant to our situation?,What resources and support groups are available for families dealing with intellectual disability syndromes?
Common questions about OBSOLETE: Intellectual disability-unusual facies syndrome
What is OBSOLETE: Intellectual disability-unusual facies syndrome?
Intellectual disability-unusual facies syndrome (also sometimes referred to as unusual facies-intellectual disability syndrome) is an extremely rare genetic condition that was historically described in medical literature but has since been reclassified as 'obsolete' in the Orphanet database. This means that the condition may have been merged with another recognized diagnosis, reclassified under a different name, or found to overlap significantly with other known syndromes. The condition was originally characterized by intellectual disability (difficulty with learning, reasoning, and adaptive b
At what age does OBSOLETE: Intellectual disability-unusual facies syndrome typically begin?
Typical onset of OBSOLETE: Intellectual disability-unusual facies syndrome is childhood. Age of onset can vary across affected individuals.