Overview
Robin sequence-oligodactyly syndrome is an extremely rare genetic condition that combines two main features: Pierre Robin sequence and oligodactyly (having fewer fingers or toes than normal). Pierre Robin sequence refers to a group of problems present at birth that includes a very small lower jaw (micrognathia), a tongue that falls back into the throat (glossoptosis), and often a cleft palate (an opening in the roof of the mouth). Oligodactyly means that one or more fingers or toes are missing or underdeveloped. Because of the small jaw and tongue positioning, newborns with this condition may have serious breathing difficulties and feeding problems right from birth. The cleft palate, when present, adds to feeding challenges and may affect speech development later in life. The hand and foot differences can range from mild to more significant, potentially affecting grip and fine motor skills. Treatment focuses on managing each symptom individually. Breathing problems may require positioning techniques, special airways, or sometimes surgery. Cleft palate is typically repaired surgically. Feeding support, speech therapy, and hand therapy or reconstructive surgery for the fingers and toes may also be needed. A team of specialists working together provides the best outcomes for children with this syndrome.
Also known as:
Key symptoms:
Very small lower jawTongue falling back into the throatCleft palate (opening in the roof of the mouth)Missing or underdeveloped fingersMissing or underdeveloped toesBreathing difficulties at birthFeeding problems in infancyFailure to thrive or poor weight gainSpeech difficultiesEar infectionsHearing problems
Clinical phenotype terms (10)— 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 Robin sequence-oligodactyly syndrome.
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Specialists
View all specialists →No specialists are currently listed for Robin sequence-oligodactyly 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 Robin sequence-oligodactyly syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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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 obstruction, and what is the plan to manage it?,Will my child need surgery for the cleft palate, and when is the best timing?,What feeding strategies or equipment do you recommend?,Are there surgical options to improve hand or foot function?,Should we pursue genetic testing, and what might it tell us?,What is the chance of this condition occurring again in future pregnancies?,What therapies (speech, occupational) should we start, and when?
Common questions about Robin sequence-oligodactyly syndrome
What is Robin sequence-oligodactyly syndrome?
Robin sequence-oligodactyly syndrome is an extremely rare genetic condition that combines two main features: Pierre Robin sequence and oligodactyly (having fewer fingers or toes than normal). Pierre Robin sequence refers to a group of problems present at birth that includes a very small lower jaw (micrognathia), a tongue that falls back into the throat (glossoptosis), and often a cleft palate (an opening in the roof of the mouth). Oligodactyly means that one or more fingers or toes are missing or underdeveloped. Because of the small jaw and tongue positioning, newborns with this condition may
How is Robin sequence-oligodactyly syndrome inherited?
Robin sequence-oligodactyly syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Robin sequence-oligodactyly syndrome typically begin?
Typical onset of Robin sequence-oligodactyly syndrome is neonatal. Age of onset can vary across affected individuals.