CSCF affects multiple body systems. The features listed here are drawn from published medical case studies and peer-reviewed research. Not every individual will experience all of these — presentation varies widely.
Heart & Cardiovascular System
Heart Valve Issues
Mitral, aortic, pulmonary, and tricuspid valve abnormalities are among the most common cardiac findings in CSCF.
Congenital Differences
Septal defects (VSD, ASD, PFO), bicuspid aortic valve, aortic arch abnormalities, and pulmonary artery stenosis.
Dilated Cardiomyopathy
Newly reported in recent cases — an enlarged, weakened heart muscle that can present in infancy.
Cardiac Monitoring
Lifelong cardiology follow-up is essential. Some individuals require surgical or catheter-based interventions.
Bones, Spine & Joints
Short Stature
Growth retardation is common, with some individuals significantly below average height for their age.
Bone Fusion
Vertebral synostosis (cervical and thoracic), carpal and tarsal bone fusion are hallmark skeletal features of CSCF.
Short Fingers & Toes
Brachydactyly (shortened digits) is frequently observed, sometimes alongside joint laxity or contractures.
Scoliosis & Pectus
Spinal curvature (scoliosis) and pectus excavatum (sunken chest) are reported in multiple cases.
Auditory System
Conductive Hearing Loss
Bilateral conductive hearing loss is present in most individuals with CSCF, often from birth or early infancy.
Ear Infections
Recurrent otitis media (middle ear infections) is common and often requires tympanostomy tube placement.
Inner Ear Malformation
Structural abnormalities of the inner ear and stenosis of the external auditory canal have been documented.
Audiological Support
Hearing aids, cochlear implant evaluation, and speech therapy are important components of care.
Growth, Feeding & Facial Features
Feeding Challenges
Feeding difficulties from birth are very common. Some infants require nasogastric or gastrostomy tube (G-tube) feeding.
Growth Delays
Global developmental delay affecting gross motor, fine motor, and speech milestones is frequently reported.
Facial Features
Prominent forehead, widely spaced eyes, downslanted palpebral fissures, broad nasal bridge, and low-set ears.
Hypotonia
Low muscle tone (hypotonia) is common and contributes to motor delays. Early physical therapy is beneficial.
Pulmonary
Recurrent respiratory infections; thoracic vertebral fusion can restrict lung growth
Skin
Soft, velvety skin; wrinkled palms and soles; skin laxity
Eyes
Ptosis, strabismus, and downslanted palpebral fissures
Gastrointestinal
Reflux, dysmotility, intestinal obstruction (rare)
Immune
Possible immune dysregulation; inflammatory bowel disease reported in one case
Neurological
Normal brain MRI in most cases; mild intellectual disability in some
CSCF presents differently in every individual. Some may have primarily cardiac involvement, others skeletal or developmental. Severity ranges from mild to life-threatening. This variability is why personalized, multidisciplinary care matters so much.