Ellis–Van Creveld syndrome (EVC) is a rare genetic disorder that affects bone growth, teeth, nails, and often the heart. It is inherited most commonly in an autosomal recessive pattern and is characterized by short stature, polydactyly (extra fingers or toes), and congenital heart defects.

🌍 Overview

• Condition: Also called chondroectodermal dysplasia.
• Inheritance: Usually autosomal recessive (both parents carry one mutated gene). Rarely autosomal dominant in certain gene variants.
• Genes involved: Mutations in EVC and EVC2 are most common, but other genes (e.g., DYNC2H1, GLI1, WDR35) can also be implicated.
• Frequency: Extremely rare worldwide (1 in 60,000–200,000 births), but more common in specific populations such as the Old Order Amish of Pennsylvania and some Indigenous groups in Western Australia.

🔑 Symptoms & Features

• Skeletal:
  • Short stature (disproportionately short forearms and lower legs).
  • Narrow chest with short ribs.
  • Knock-knee (genu valgum).
• Hands/Feet:
  • Polydactyly (extra fingers/toes).
  • Malformed fingernails and toenails.
• Dental:
  • Abnormal or missing teeth.
• Cardiac:
  • More than 50% of patients have congenital heart defects, which can be life-threatening.
• Other:
  • Hair and nail abnormalities.
  • Sometimes respiratory issues due to chest structure.

🛠 Diagnosis

• Clinical exam: Identifies short stature, polydactyly, dental/nail anomalies.
• Imaging: X-rays show bone growth abnormalities.
• Genetic testing: Confirms mutations in EVC/EVC2 or related genes.

🩺 Treatment & Management

• Orthopedic surgery: Corrects knock-knee and limb deformities.
• Cardiac surgery: Treats congenital heart defects.
• Dental care: Manages abnormal teeth growth.
• Supportive care: Monitoring growth, respiratory function, and overall development.

✨ Summary

Ellis–Van Creveld syndrome is a rare inherited disorder marked by short stature, polydactyly, dental and nail abnormalities, and frequent congenital heart defects. Management focuses on surgery and supportive care, while genetic counseling is important for families.

Sources: NORD Rare Disease Report, Johns Hopkins Medicine, MedlinePlus Genetics.