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
- triradiate acetabula
- cleft lip and/or palate
- epispadias
- cryptorchidism
- polydactyly: tends to be postaxial
- limb anomalies
- short limbs: especially forearm and lower leg
- bowing of humerus and femur
- hypoplasia of proximal tibial ossification center
- genu valgum
- short fibula
- carpal coalition
- short and broad middle phalanges
- hypoplastic distal phalanges
- short stature
- sparse, absent, or fine textured hair
- dental anomalies
- peg teeth
- widely spaced teeth
- natal teeth
- delayed teeth
- missing teeth
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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