Overview
Intellectual disability-facial dysmorphism-hand anomalies syndrome is an extremely rare genetic condition that affects brain development, facial features, and the structure of the hands. Children born with this syndrome typically show intellectual disability ranging from mild to severe, meaning they may have difficulty learning, reasoning, and developing skills at the same pace as other children their age. The facial features associated with this condition can include an unusually shaped face, widely spaced eyes, a broad or flat nasal bridge, and other subtle differences in facial structure that a trained geneticist may recognize. Hand anomalies can include short fingers (brachydactyly), curved fingers (clinodactyly), or other structural differences in the hands that may affect fine motor skills. Because this syndrome is so rare, the treatment landscape is largely supportive rather than curative. Management focuses on early intervention programs, special education services, speech and occupational therapy, and addressing any specific medical complications as they arise. Regular follow-up with a team of specialists is important to monitor development and provide the best possible support for affected individuals and their families.
Key symptoms:
Intellectual disabilityDelayed speech and language developmentUnusual facial featuresShort fingersCurved fingersWidely spaced eyesBroad or flat nasal bridgeLow-set earsDelayed motor milestonesLearning difficultiesHand abnormalitiesShort statureBehavioral challenges
Clinical phenotype terms (34)— hover any for plain English
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 Intellectual disability-facial dysmorphism-hand anomalies syndrome.
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Specialists
View all specialists →No specialists are currently listed for Intellectual disability-facial dysmorphism-hand anomalies 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 Intellectual disability-facial dysmorphism-hand anomalies 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 other family members be tested?,What therapies and early intervention services do you recommend starting right away?,How severe is the intellectual disability, and what level of independence can we expect over time?,Are there any surgical options to improve hand function?,What educational supports should we request from our school district?,Are there any clinical trials or research studies we should know about?,How often should we schedule follow-up appointments, and with which specialists?
Common questions about Intellectual disability-facial dysmorphism-hand anomalies syndrome
What is Intellectual disability-facial dysmorphism-hand anomalies syndrome?
Intellectual disability-facial dysmorphism-hand anomalies syndrome is an extremely rare genetic condition that affects brain development, facial features, and the structure of the hands. Children born with this syndrome typically show intellectual disability ranging from mild to severe, meaning they may have difficulty learning, reasoning, and developing skills at the same pace as other children their age. The facial features associated with this condition can include an unusually shaped face, widely spaced eyes, a broad or flat nasal bridge, and other subtle differences in facial structure th
How is Intellectual disability-facial dysmorphism-hand anomalies syndrome inherited?
Intellectual disability-facial dysmorphism-hand anomalies syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Intellectual disability-facial dysmorphism-hand anomalies syndrome typically begin?
Typical onset of Intellectual disability-facial dysmorphism-hand anomalies syndrome is neonatal. Age of onset can vary across affected individuals.