Overview
Dysmorphism-pectus carinatum-joint laxity syndrome is an extremely rare genetic condition that affects the way the body develops, particularly the skeleton, joints, and facial features. The name describes its three main features: dysmorphism (unusual facial features), pectus carinatum (a chest that sticks out more than normal, sometimes called "pigeon chest"), and joint laxity (joints that are unusually loose and flexible, also called hypermobility). People with this condition may also have other skeletal differences, growth issues, and sometimes mild developmental delays. Because this syndrome is so rare, it has been described in only a very small number of individuals or families in the medical literature. The exact genetic cause has not been fully established, and much of what is known comes from detailed case reports. Facial features may include a broad forehead, widely spaced eyes, a flat nasal bridge, and other subtle differences that a trained geneticist can recognize. There is currently no cure for this condition. Treatment focuses on managing individual symptoms. For example, orthopedic care may be needed for the chest wall abnormality or joint problems, and physical therapy can help strengthen muscles around loose joints. Regular follow-up with a team of specialists is important to monitor growth and development and address any new concerns as they arise.
Also known as:
Key symptoms:
Chest that sticks out (pigeon chest or pectus carinatum)Unusually loose and flexible joints (joint hypermobility)Unusual facial featuresWidely spaced eyesBroad or prominent foreheadFlat nasal bridgeShort stature or growth delaysSkeletal abnormalitiesPossible mild developmental delayFrequent joint dislocations or sprainsLow muscle tone
Clinical phenotype terms (11)— hover any for plain English
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Dysmorphism-pectus carinatum-joint laxity syndrome.
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Specialists
View all specialists →No specialists are currently listed for Dysmorphism-pectus carinatum-joint laxity 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 Dysmorphism-pectus carinatum-joint laxity syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
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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.What specific features does my child have that led to this diagnosis?,Should we pursue genetic testing such as whole exome sequencing to look for a cause?,What specialists should be part of our care team?,How can we best protect my child's joints during daily activities and sports?,Does the chest wall shape need treatment, and if so, when?,Are there any signs or symptoms we should watch for that would need urgent attention?,What developmental support services would you recommend?
Common questions about Dysmorphism-pectus carinatum-joint laxity syndrome
What is Dysmorphism-pectus carinatum-joint laxity syndrome?
Dysmorphism-pectus carinatum-joint laxity syndrome is an extremely rare genetic condition that affects the way the body develops, particularly the skeleton, joints, and facial features. The name describes its three main features: dysmorphism (unusual facial features), pectus carinatum (a chest that sticks out more than normal, sometimes called "pigeon chest"), and joint laxity (joints that are unusually loose and flexible, also called hypermobility). People with this condition may also have other skeletal differences, growth issues, and sometimes mild developmental delays. Because this syndro
At what age does Dysmorphism-pectus carinatum-joint laxity syndrome typically begin?
Typical onset of Dysmorphism-pectus carinatum-joint laxity syndrome is neonatal. Age of onset can vary across affected individuals.