Chondroectodermal dysplasia, also known as the Ellis-van Creveld syndrome, is a rare type of skeletal dysplasia. It is classified as a type of mesomelic limb shortening 5.
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Epidemiology
Associations
congenital cardiac anomalies: may be present in up to ~50% of cases
Clinical spectrum
Clinical features include:
narrowing of thorax with short ribs
small and flared ilia
polydactyly: tends to be postaxial
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limb anomalies
short limbs: especially forearm and lower leg
bowing of humerus and femur
hypoplasia of proximal tibial ossification center
short fibula
short and broad middle phalanges
hypoplastic distal phalanges
sparse, absent, or fine textured hair
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dental anomalies
Pathology
Genetics
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.
History and etymology
It is named after the British pediatrician Richard W B Ellis (1902-1966) 8 and the Dutch pediatric hematologist Simon van Creveld (1894-1971) 7 who first described their eponymous syndrome in 1940 2.
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