Living with Contractures-developmental delay-Pierre Robin syndrome
A rare genetic syndrome with a small jaw and cleft palate, tight joints, and developmental delay.
Understanding Contractures-developmental delay-Pierre Robin syndrome
Pierre Robin sequence means a small lower jaw, a tongue that sits far back, airway blockage, and a U-shaped cleft in the soft palate. Other features vary and can include clubfoot, long slender fingers, fused forearm bones, severe hip dysplasia, heart differences, and eye differences. It starts during pregnancy and in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small lower jaw (micrognathia)
- Cleft palate
- Tongue that sits far back (glossoptosis)
- Clubfoot
- Hip dysplasia
- Delayed speech and movement skills
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, ear, nose, and throat specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Chromosome Disorder Outreach and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition. It doesn't name a gene.
Also known as: 5q23 microdeletion syndrome; joint contractures, developmental delay, pierre robin syndrome
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Contractures-developmental delay-Pierre Robin syndrome.
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