Connecting Families.
Raising Awareness.
Supporting Research.
Cardiospondylocarpofacial syndrome (CSCF) is an ultra-rare genetic condition affecting the heart, bones, hearing, and development — and no family should face it alone.
Why CSCF Support Exists
We exist to make sure no family faces this diagnosis alone — with community, knowledge, and hope.
Bring Families Together
Connect with other families navigating CSCF. Share experiences, find understanding, and build lasting relationships with people who truly get it.
Share Trusted Information
Access reliable, up-to-date information about CSCF — from diagnosis and symptoms to treatment options and specialist resources backed by peer-reviewed research.
Help Move Research Forward
Support and participate in research efforts that bring us closer to better treatments and, ultimately, a cure for CSCF. Every story shared matters.
An ultra-rare condition.
A community that understands.
Cardiospondylocarpofacial syndrome (CSCF) is an ultra-rare genetic condition caused by variants in the MAP3K7 gene. It affects multiple body systems — the heart, spine, hands, feet, face, and hearing — and can present very differently in each person.
Because fewer than 30 cases have been genetically confirmed worldwide, families often spend years searching for answers before receiving a diagnosis. The rarity makes finding specialists, information, and peer support a tremendous challenge.
Exceptionally Rare
Fewer than 30 cases have been genetically confirmed in medical literature as of 2025, making CSCF one of the rarest genetic conditions known.
Systems Affected
MAP3K7 Gene
Chromosome 6q15
Support Across Every Area
CSCF affects multiple body systems. Here are the key areas where families most often need guidance and connection.
Early Intervention
Early therapy services — occupational, physical, and speech — can dramatically improve developmental outcomes for children with CSCF. Connect with early intervention programs in your area.
Get connectedHearing Support
Most children with CSCF have conductive hearing loss. Audiologists, hearing aids, and cochlear implant teams can provide critical support for communication and learning.
Get connectedCardiology Care
Cardiac involvement is a hallmark of CSCF. Finding a pediatric cardiologist experienced with complex congenital heart disease and rare syndromes is essential.
Get connectedSchool Support
Children with CSCF may qualify for IEPs, 504 plans, and specialized services. Knowing your child's educational rights is a powerful tool for advocacy.
Get connectedNeed help finding the right specialist or resource?
Ask the CommunityYou Are Not Alone
Families, patients, caregivers, and researchers — all coming together around CSCF. Whatever stage you are at, there is a place for you here.
Join the CommunityJoin the Community
Connect with families and access trusted CSCF resources.