Living with Cardiospondylocarpofacial syndrome
A rare genetic condition with short stature, heart differences, fused bones, hearing loss, and distinct facial features.
Understanding Cardiospondylocarpofacial syndrome
People with this condition have slow growth, short stature, feeding trouble, and heart differences such as holes between heart chambers or valve problems. They may also have loose joints, short arms and legs, fused wrist, ankle, and neck bones, and hearing loss from inner ear differences. It can be found at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss from inner ear differences (conductive)
- Fused wrist bones
- Leaking mitral valve and mitral valve prolapse
- High, narrow palate
- Teeth that are out of position or do not come in
- Differently shaped spine bones
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 ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in MAP3K7 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); 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
Changes in the MAP3K7 gene cause this condition. It is inherited in an autosomal dominant way, so one changed copy of the gene can cause it.
Also known as: cscf; forney robinson pascoe syndrome; forney syndrome; forney-robinson-pascoe syndrome; mitral regurgitation with deafness and skeletal anomalies syndrome; mitral regurgitation-deafness-skeletal anomalies 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 Cardiospondylocarpofacial syndrome.
Explore research for Cardiospondylocarpofacial syndrome
Explore actively recruiting Cardiospondylocarpofacial syndrome studies with HealthSpark.
Find actively recruiting studies for Cardiospondylocarpofacial syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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