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 — and Often Missed
Fewer than 30 cases have been genetically confirmed worldwide. Many more may go undiagnosed or misdiagnosed. Whole exome sequencing (WES) is the only way to confirm CSCF.
Genetic testing is essential
A confirmed MAP3K7 variant unlocks the right care, the right specialists, and connection to this community.
Systems Affected
MAP3K7 Gene
Chromosome 6q15
Genetic testing is the only way to confirm CSCF.
Because CSCF shares features with other conditions like Noonan syndrome, a clinical diagnosis alone is not enough. Whole exome sequencing (WES) identifying a pathogenic variant in the MAP3K7 gene is required for a confirmed diagnosis.
Without a confirmed genetic diagnosis, children may receive incomplete or misdirected care. A confirmed result unlocks the right specialists, the right monitoring protocols, and connection to the only community in the world that truly understands what your family is going through.
Clinical features alone are not enough
CSCF overlaps significantly with Noonan syndrome, FMD2, and other RASopathies. Many children are misdiagnosed for years. Only a MAP3K7 variant on WES confirms CSCF.
Most cases are de novo
In most confirmed cases, the MAP3K7 variant arose spontaneously — it was not inherited from either parent. This means standard family history may not raise any red flags.
Early diagnosis changes outcomes
Knowing the diagnosis early means cardiac monitoring, hearing intervention, and developmental therapies can begin sooner — when they have the greatest impact.
How to pursue a genetic diagnosis
Talk to Your Doctor
Ask your pediatrician or specialist about whole exome sequencing (WES). Mention the MAP3K7 gene and CSCF by name — most clinicians have never encountered it.
Request Trio-WES
Trio whole exome sequencing — testing the child and both parents together — is the gold standard for identifying de novo MAP3K7 variants. It has confirmed every known CSCF case.
Understand the Results
A genetic counselor can help interpret your results, explain what a MAP3K7 variant means for your child and family, and guide next steps for management and monitoring.
Connect & Contribute
A confirmed genetic diagnosis helps your child get the right care — and adds to the global body of knowledge. Every confirmed case matters for the entire CSCF community.
Not sure where to start?
Our community includes families who have navigated the diagnostic journey. Ask them directly.
Support Across Every Area
CSCF affects multiple body systems. Here are the key areas where families most often need guidance and connection.
Genetic Testing
Whole exome sequencing (WES) of the MAP3K7 gene is the only way to confirm a CSCF diagnosis. Without it, children may be misdiagnosed or miss critical monitoring and care.
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.