Short stature-wormian bones-dextrocardia syndrome

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ORPHA:2863OMIM:185120Q87.1
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Overview

Short stature-wormian bones-dextrocardia syndrome is an extremely rare genetic condition that affects multiple body systems. The syndrome is characterized by three main features: short stature (being significantly shorter than expected for age and sex), wormian bones (extra small bones found within the sutures or joints of the skull), and dextrocardia (a condition where the heart is positioned on the right side of the chest instead of the left). This combination of findings makes the syndrome distinctive, though very few cases have been reported in the medical literature. In addition to the three hallmark features, affected individuals may have other skeletal abnormalities, unusual facial features, and sometimes mild developmental differences. The bones may be more fragile or show unusual patterns on X-rays. Because the heart is on the opposite side, it is important for doctors to be aware of this during any medical procedures or emergencies. There is currently no cure for this syndrome. Treatment focuses on managing individual symptoms. Growth hormone therapy may be considered for short stature, and regular heart monitoring is important to ensure the dextrocardia does not come with additional heart defects. Orthopedic care may be needed for skeletal issues. Because so few cases have been described, much about this condition remains to be understood, and management is tailored to each patient's specific needs.

Also known as:

Key symptoms:

Short stature or growth delayHeart positioned on the right side of the chest (dextrocardia)Extra small bones in the skull (wormian bones)Unusual facial featuresSkeletal abnormalitiesPossible bone fragilityDelayed bone developmentBroad or flat nasal bridgePossible mild developmental delayJoint looseness or hypermobility

Clinical phenotype terms (25)— hover any for plain English
Broad alveolar ridgesHP:0000187Abnormality of the philtrumHP:0000288Depressed nasal tipHP:0000437Anterior hypopituitarismHP:0000830DextrocardiaHP:0001651
Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Short stature-wormian bones-dextrocardia syndrome.

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No actively recruiting trials found for Short stature-wormian bones-dextrocardia syndrome at this time.

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No specialists are currently listed for Short stature-wormian bones-dextrocardia syndrome.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Short stature-wormian bones-dextrocardia syndrome.

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Community

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.Does my child have any heart defects in addition to the dextrocardia?,Should we consider growth hormone testing or treatment?,How often should we have heart and bone check-ups?,Are there any physical activities my child should avoid?,Should our family have genetic testing to understand the inheritance pattern?,What should I tell emergency medical providers about my child's condition?,Are there any research studies or registries we can participate in?

Common questions about Short stature-wormian bones-dextrocardia syndrome

What is Short stature-wormian bones-dextrocardia syndrome?

Short stature-wormian bones-dextrocardia syndrome is an extremely rare genetic condition that affects multiple body systems. The syndrome is characterized by three main features: short stature (being significantly shorter than expected for age and sex), wormian bones (extra small bones found within the sutures or joints of the skull), and dextrocardia (a condition where the heart is positioned on the right side of the chest instead of the left). This combination of findings makes the syndrome distinctive, though very few cases have been reported in the medical literature. In addition to the t

How is Short stature-wormian bones-dextrocardia syndrome inherited?

Short stature-wormian bones-dextrocardia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Short stature-wormian bones-dextrocardia syndrome typically begin?

Typical onset of Short stature-wormian bones-dextrocardia syndrome is childhood. Age of onset can vary across affected individuals.