Overview
Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome is an extremely rare genetic condition that affects multiple body systems. As the name describes, people with this syndrome typically have heart (cardiac) abnormalities, shorter-than-expected height, unusually flexible joints (joint hypermobility), and distinctive facial features (facial dysmorphism). The heart problems can range from structural defects present at birth, such as septal defects (holes between heart chambers), to other congenital cardiac malformations. The facial features may include a broad forehead, widely spaced eyes, a flat nasal bridge, and other subtle differences. Joint hypermobility means that joints can bend further than normal, which may lead to joint pain, dislocations, or instability over time. Short stature is typically noticed during childhood when growth falls below expected ranges. Because this syndrome is so rare, the treatment approach is mainly supportive and symptom-based. Heart defects may require surgical correction or ongoing monitoring by a cardiologist. Growth may be evaluated by an endocrinologist, and joint problems can be managed with physical therapy and supportive measures. Early diagnosis and coordinated care from multiple specialists are important to optimize outcomes for affected individuals.
Key symptoms:
Heart defects present at birthShort stature or poor growthOverly flexible or loose jointsDistinctive facial featuresBroad foreheadWidely spaced eyesFlat nasal bridgeJoint pain or instabilityDelayed growth milestonesPossible developmental delaysLow muscle toneFrequent joint dislocations or subluxations
Clinical phenotype terms (23)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome.
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Specialists
View all specialists →No specialists are currently listed for Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism 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 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
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 heart abnormalities does my child have, and do they need surgical treatment?,How often should we have cardiac check-ups and echocardiograms?,Is genetic testing recommended for our family, and what might the results tell us?,Would growth hormone therapy be appropriate for my child's short stature?,What physical activities are safe given the joint hypermobility and heart condition?,Are there any signs or symptoms I should watch for that would require emergency care?,Can you refer us to a physical therapist experienced with joint hypermobility?
Common questions about Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
What is Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome?
Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome is an extremely rare genetic condition that affects multiple body systems. As the name describes, people with this syndrome typically have heart (cardiac) abnormalities, shorter-than-expected height, unusually flexible joints (joint hypermobility), and distinctive facial features (facial dysmorphism). The heart problems can range from structural defects present at birth, such as septal defects (holes between heart chambers), to other congenital cardiac malformations. The facial features may include a broad forehead
How is Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome inherited?
Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome typically begin?
Typical onset of Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome is neonatal. Age of onset can vary across affected individuals.