"It is named after the British paediatrician Richard W B Ellis (1902-1966) 8 and the Dutch paediatric haematologist Simon van Creveld (1894-1971) 7 who first described their eponymous syndrome in 1940 2."
"Chondroectodermal dysplasia is caused by defects in one of two Ellis van Creveld syndrome genes (EVC1 and EVC2) that are next to each other on chromosome 4p16 3. It is thought to carry an autosomal recessive inheritance with variable expression 4."
Expected headings
"Associations"