Overview
Pierre Robin syndrome associated with bone disease is a very rare condition that combines the features of Pierre Robin sequence with abnormalities affecting the bones. Pierre Robin sequence on its own involves three main features present at birth: a very small lower jaw (micrognathia), a tongue that falls back into the throat (glossoptosis), and often a gap in the roof of the mouth (cleft palate). When this condition is associated with bone disease, affected individuals also develop skeletal problems that can include fragile bones, abnormal bone development, short stature, or other changes in bone structure and strength. Because the jaw is underdeveloped, newborns often have serious difficulty breathing and feeding. The tongue can block the airway, which may be life-threatening without prompt treatment. The bone-related features may become more apparent as the child grows, potentially leading to fractures, joint problems, or limb abnormalities. Treatment is tailored to each child's specific needs. Airway management is the first priority and may involve positioning techniques, special devices, or surgery. Cleft palate repair is typically performed in infancy. The bone disease component may require medications to strengthen bones, physical therapy, and orthopedic interventions. A team of specialists working together provides the best outcomes for children with this complex condition.
Also known as:
Key symptoms:
Very small or receding lower jawTongue falling back into the throat causing airway blockageOpening or cleft in the roof of the mouthDifficulty breathing, especially when lying on the backFeeding difficulties in infancyFragile or easily broken bonesAbnormal bone developmentShort stature or growth delaysJoint problems or stiffnessLimb abnormalities or bowing of bonesHearing problemsSpeech difficultiesFailure to gain weight properly
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 Pierre Robin syndrome associated with bone disease.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Pierre Robin syndrome associated with bone disease at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Pierre Robin syndrome associated with bone disease.
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
Financial Resources
1 resourcesRefluden
Hoechst Marion Roussel
Refluden — Contact Hoechst Marion Roussel
Travel Grants
No travel grants are currently matched to Pierre Robin syndrome associated with bone disease.
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?,How severe is the airway obstruction, and what is the plan if breathing worsens?,What type of bone disease does my child have, and how will it be monitored over time?,What feeding approach do you recommend, and when might we expect improvement?,When will cleft palate repair be scheduled, and what should we expect from surgery?,Are there medications to help strengthen my child's bones, and what are the risks?,What therapies (speech, physical, occupational) should we start, and how often?
Common questions about Pierre Robin syndrome associated with bone disease
What is Pierre Robin syndrome associated with bone disease?
Pierre Robin syndrome associated with bone disease is a very rare condition that combines the features of Pierre Robin sequence with abnormalities affecting the bones. Pierre Robin sequence on its own involves three main features present at birth: a very small lower jaw (micrognathia), a tongue that falls back into the throat (glossoptosis), and often a gap in the roof of the mouth (cleft palate). When this condition is associated with bone disease, affected individuals also develop skeletal problems that can include fragile bones, abnormal bone development, short stature, or other changes in
At what age does Pierre Robin syndrome associated with bone disease typically begin?
Typical onset of Pierre Robin syndrome associated with bone disease is neonatal. Age of onset can vary across affected individuals.
What treatment and support options exist for Pierre Robin syndrome associated with bone disease?
1 patient support program are currently tracked on UniteRare for Pierre Robin syndrome associated with bone disease. See the treatments and support programs sections for copay assistance, eligibility, and contact details.