Living with Dysmorphism-pectus carinatum-joint laxity syndrome
A rare condition with loose joints, a chest that sticks out (pigeon chest), and distinct facial features.
Understanding Dysmorphism-pectus carinatum-joint laxity syndrome
People have very flexible, loose joints and pectus carinatum, a chest bone that sticks out ('pigeon chest'). Facial features can include a mildly prominent forehead, a beaked nose with a low bridge, chubby cheeks, and a striking groove above the upper lip. Signs show up in the newborn and infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loose, flexible joints
- Chest that sticks out (pectus carinatum)
- Knock knees
- Beaked nose with low bridge
- Prominent forehead
- Full cheeks
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 genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- 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 rare disease patient organizations for support
- 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 a person's genes cause this condition. It doesn't list a specific gene.
Also known as: dysmorphism, pectus carinatum, joint laxity syndrome; guízar vázquez sánchez manzano syndrome; guízar vázquez-sánchez-manzano syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Dysmorphism-pectus carinatum-joint laxity syndrome.
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