Overview
Intellectual disability-brachydactyly-Pierre Robin syndrome is an extremely rare genetic condition that affects multiple parts of the body. The syndrome combines three main features: intellectual disability (difficulty with learning, reasoning, and problem-solving), brachydactyly (unusually short fingers and toes), and Pierre Robin sequence (a combination of a small lower jaw, a tongue that falls back into the throat, and often a cleft palate — an opening in the roof of the mouth). Because of the small jaw and tongue positioning, newborns may have serious breathing and feeding difficulties that require immediate attention. Children with this condition typically show delays in reaching developmental milestones such as sitting, walking, and speaking. The severity of intellectual disability can vary from mild to moderate. Additional features may include distinctive facial characteristics and other skeletal abnormalities. Treatment is supportive and focuses on managing each symptom individually. This may include surgery for cleft palate, airway management for breathing problems, speech therapy, special education services, and occupational therapy. A team of specialists is usually needed to provide comprehensive care throughout the person's life.
Key symptoms:
Intellectual disability or learning difficultiesShort fingers and toes (brachydactyly)Small lower jaw (micrognathia)Tongue falling back into the throat (glossoptosis)Cleft palate (opening in the roof of the mouth)Breathing difficulties in newbornsFeeding difficulties in infancyDelayed speech and language developmentDelayed motor milestones like sitting and walkingDistinctive facial featuresShort statureSkeletal abnormalities
Clinical phenotype terms (43)— 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-brachydactyly-Pierre Robin syndrome.
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Specialists
View all specialists →No specialists are currently listed for Intellectual disability-brachydactyly-Pierre Robin 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-brachydactyly-Pierre Robin 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.How severe is my child's airway involvement, and what monitoring or interventions are needed?,When should cleft palate surgery be planned, and what can we expect from the recovery?,What early intervention therapies should we start, and how often?,Is genetic testing available to confirm the diagnosis and help with family planning?,What is the expected level of intellectual disability, and how can we best support learning?,Are there any clinical trials or research studies we should know about?,What specialists should be part of our child's care team, and how often should we see them?
Common questions about Intellectual disability-brachydactyly-Pierre Robin syndrome
What is Intellectual disability-brachydactyly-Pierre Robin syndrome?
Intellectual disability-brachydactyly-Pierre Robin syndrome is an extremely rare genetic condition that affects multiple parts of the body. The syndrome combines three main features: intellectual disability (difficulty with learning, reasoning, and problem-solving), brachydactyly (unusually short fingers and toes), and Pierre Robin sequence (a combination of a small lower jaw, a tongue that falls back into the throat, and often a cleft palate — an opening in the roof of the mouth). Because of the small jaw and tongue positioning, newborns may have serious breathing and feeding difficulties tha
How is Intellectual disability-brachydactyly-Pierre Robin syndrome inherited?
Intellectual disability-brachydactyly-Pierre Robin syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Intellectual disability-brachydactyly-Pierre Robin syndrome typically begin?
Typical onset of Intellectual disability-brachydactyly-Pierre Robin syndrome is neonatal. Age of onset can vary across affected individuals.