Living with Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
An inherited condition with a Pierre Robin-type cleft palate, a sunken chest, and differences in the ribs and shoulder blades.
Understanding Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
Features include a Pierre Robin-type cleft palate, a sunken chest (pectus excavatum), rib differences, and underdevelopment of the lower parts of the shoulder blades. Some people also have low muscle tone, a low hairline, a webbed neck, and very flexible joints.
Signs & symptoms
GARD doesn't list a symptom list, but the summary describes:
- Cleft palate (Pierre Robin type)
- Sunken chest (pectus excavatum)
- Rib differences
- Underdeveloped shoulder blades
- Low muscle tone
- Webbed neck and very flexible joints
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 FACES: The National Craniofacial Association
- 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 lists this condition as autosomal dominant, which means one changed copy of a gene is enough to cause it. It doesn't name a specific gene.
Also known as: campomelic dysplasia, mild; skeletal dysplasia related to campomelic dysplasia
Patient organizations
- FACES: The National Craniofacial AssociationPierre Robin sequence with pectus excavatum and rib and scapular anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Pierre Robin sequence with pectus excavatum and rib and scapular anomalies.
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