Ellis van Creveld syndome

Area of Science:

• Genetics
• Medical Genetics
• Rare Diseases

Background:

• Ellis-van Creveld syndrome (EVC) is a rare autosomal recessive disorder characterized by chondrodysplasia, ectodermal dysplasia, polydactyly, and congenital heart disease.
• While its exact prevalence is unknown, EVC appears more common in specific populations like the Amish and has been reported in India.

Observation:

• This report details a classical case of EVC syndrome in a 22-year-old woman of Indian origin.
• The patient's parents were consanguineous, a factor sometimes associated with recessive genetic disorders.

Findings:

• The patient exhibited key features of EVC, including disproportionate dwarfism due to chondrodysplasia of tubular bones.
• Additional findings included postaxial polydactyly, dystrophic nails, partial anodontia, pectus excavatum, knock knees, and an atrioventricular canal defect.

Implications:

• This case contributes to the understanding of EVC's phenotypic variability and its occurrence in diverse populations.
• It underscores the importance of recognizing the constellation of symptoms for timely diagnosis and management of EVC syndrome.
• Further research into the genetic and epidemiological aspects of EVC in different ethnic groups is warranted.