Overview
Contractures-developmental delay-Pierre Robin syndrome is an extremely rare genetic condition that affects multiple body systems. It is sometimes referred to by its Orphanet designation (ORPHA:436003). The syndrome combines three main features: joint contractures (stiffness and limited movement in the joints), developmental delay (slower than expected progress in learning, thinking, and motor skills), and Pierre Robin sequence (a combination of a very small lower jaw, a tongue that falls back into the throat, and often a cleft palate — an opening in the roof of the mouth). Babies born with this condition may have breathing and feeding difficulties from birth due to the small jaw and airway obstruction. The joint contractures can affect the fingers, elbows, knees, or other joints, limiting movement and physical development. Developmental delay can range from mild to significant and may affect speech, motor skills, and cognitive abilities. Because this is such a rare condition, the treatment approach is largely supportive and symptom-based. Management typically involves a team of specialists who address breathing problems, feeding challenges, orthopedic issues, and developmental support. Surgical interventions may be needed for the cleft palate or to improve airway function. Physical and occupational therapy can help with joint mobility and developmental progress. Early intervention programs are important to maximize each child's potential.
Also known as:
Key symptoms:
Stiff or tight joints that limit movement (contractures)Small lower jaw (micrognathia)Tongue falling back into the throat (glossoptosis)Cleft palate (opening in the roof of the mouth)Breathing difficulties, especially in newbornsFeeding difficulties in infancyDelayed motor milestones like sitting and walkingDelayed speech and language developmentIntellectual disability or learning difficultiesShort stature or growth delaysLimited range of motion in fingers, elbows, or kneesLow muscle tone (floppiness)
Clinical phenotype terms (36)— 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 Contractures-developmental delay-Pierre Robin syndrome.
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Specialists
View all specialists →No specialists are currently listed for Contractures-developmental delay-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 Contractures-developmental delay-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
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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 or jaw, and when is the best timing?,What therapies should we start right away to support my child's development?,Is genetic testing recommended for our family, and what would the results mean for future pregnancies?,What feeding strategies or equipment can help my child gain weight safely?,How often should my child be seen by each specialist on the care team?,Are there any clinical trials or research studies we should know about?
Common questions about Contractures-developmental delay-Pierre Robin syndrome
What is Contractures-developmental delay-Pierre Robin syndrome?
Contractures-developmental delay-Pierre Robin syndrome is an extremely rare genetic condition that affects multiple body systems. It is sometimes referred to by its Orphanet designation (ORPHA:436003). The syndrome combines three main features: joint contractures (stiffness and limited movement in the joints), developmental delay (slower than expected progress in learning, thinking, and motor skills), and Pierre Robin sequence (a combination of a very small lower jaw, a tongue that falls back into the throat, and often a cleft palate — an opening in the roof of the mouth). Babies born with thi
How is Contractures-developmental delay-Pierre Robin syndrome inherited?
Contractures-developmental delay-Pierre Robin syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Contractures-developmental delay-Pierre Robin syndrome typically begin?
Typical onset of Contractures-developmental delay-Pierre Robin syndrome is neonatal. Age of onset can vary across affected individuals.