Living with Isolated Pierre-Robin syndrome
A set of features from birth with a small lower jaw, a tongue placed far back, and airway blockage, often with a cleft palate.
Understanding Isolated Pierre-Robin syndrome
It includes a small lower jaw (micrognathia), a tongue that sits further back than usual (glossoptosis), and blocked airways. Most people also have a cleft palate. These can cause trouble breathing and eating early in life, and some babies gain weight slowly. In some children the jaw catches up, and adults can have a normal-sized chin.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small lower jaw (micrognathia)
- Tongue placed far back (glossoptosis)
- Cleft palate
- Blocked upper airway
- Feeding difficulties in infancy
- Slow weight gain (failure to thrive)
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 ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in SOX9 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
American Cleft Palate Craniofacial Association and World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: American Cleft Palate Craniofacial Association, 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 American Cleft Palate Craniofacial Association 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
Changes in the SOX9 gene are listed, and GARD lists autosomal dominant inheritance. The small jaw starts a chain of events before birth that leads to the other features.
Also known as: glossoptosis, micrognathia, and cleft palate; isolated pierre robin sequence; isolated pierre robin syndrome; micrognathia-glossoptosis syndrome; pierre robin association; pierre robin sequence
Patient organizations
- American Cleft Palate Craniofacial AssociationIsolated Pierre-Robin syndrome · 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 Isolated Pierre-Robin syndrome.
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