Introduction

The rare autosomal recessive skeletal dysplasia known as Ellis-Van Creveld Syndrome (EvC) is brought on by mutations in the EVC and EVC2 genes. Postaxial polydactyly, ectodermal dysplasia, and disproportionate low stature are its three distinguishing characteristics. Congenital heart abnormalities are frequently present as well. Making the distinction between EvC and other related skeletal illnesses and directing efficient patient management and counselling depends on an accurate diagnosis.^1,2

EVC mostly manifests as

• Short stature: Acromesomelic and mesomelic limb shortening
• Bilateral postaxial polydactyly: Almost always present in hands, although occasionally seen in feet
• Ectodermal dysplasia: Nail dystrophy, hypodontia, conical teeth, upper lip, and gingival fusion
• Up to 60% of individuals have congenital heart problems, including atrial septal anomalies. Fused carpal bones and thoracic constriction are among the radiographic findings³

Mechanisms of development and genetics

EvC disrupts the Hedgehog signalling system, which is essential for skeletal and ectodermal development, and is transmitted autosomally recessively. It involves pathogenic mutations in EVC and EVC2. EvC is linked to other ciliopathies, such as Jeune syndrome, McKusick-Kaufman syndrome (MKS), and Short Rib-Polydactyly Syndrome (SRPS), due to mutations that affect ciliary function.^4,3

Differential diagnosis⁵

The diagnostic approach integrates genetic, radiologic, and clinical investigations

• Confirming EVC/EVC2 mutations through genetic testing is essential for family counselling
• Imaging: echocardiogram, ECG, and skeletal survey
• Prenatal diagnosis: Possible by genetic analysis and ultrasound (limb shortening, polydactyly)
• Radiology: Characteristic findings distinguish from SRPS, Jeune, and other dysplasias^5,6,10

Principles of management

• Multidisciplinary care is effective:
• Heart health: Monitoring and treating congenital abnormalities
• Orthopaedics: Limb/joint interventions as required
• Dentistry: Complete care for oral fusions and dental abnormalities
• Genetic counselling: Family support, recurrence risk, prenatal advice
• Unlike fatal SRPS or severe Jeune syndrome, EvC usually permits survival until adulthood; nonetheless, early intervention and access to specialised services are still essential
• Psychosocial Problems: Living with EvC might provide difficulties with self-image, familial stress, and stigma. Support groups, health education, and expert counselling help individuals and families adapt and thrive^7,8,9

Summary

Van Creveld syndrome is characterised by the hallmarks of short limbs, additional fingers (polydactyly), and malformed teeth and nails, which are clinically and genetically unique conditions. Congenital heart abnormalities are frequently present as well. These remarkable characteristics are confirmed by radiographic imaging, which frequently shows a narrow chest and bone abnormalities, and are visible during a physical examination. Heart defects, particularly septal anomalies, are a major cause of early problems and the need for lifelong care. Mutations in the EVC or EVC2 genes 

cause the syndrome, which is inherited in an autosomal recessive manner and impairs skeletal, cardiac, and dental development in utero. A precise diagnosis ensures that treatment is customised to each patient's particular manifestations by combining clinical evaluation, sophisticated imaging, and molecular genetic testing. Coordinated care, which includes genetic assistance, pediatric, orthopaedic, cardiology, and dental treatment, has an impact on families who receive the counselling and resources necessary to address this rare and complex syndrome, emphasising early intervention and supportive therapies for the best possible outcomes.