Chondroectodermal dysplasia

Last revised by Henry Atkinson on 12 Oct 2023

Citation, DOI, disclosures and article data

Citation:

Radswiki T, Atkinson H, Bell D, et al. Chondroectodermal dysplasia. Reference article, Radiopaedia.org (Accessed on 05 Dec 2023) https://doi.org/10.53347/rID-15022

DOI:

https://doi.org/10.53347/rID-15022

Permalink:

https://radiopaedia.org/articles/15022

rID:

15022

Article created:

15 Sep 2011, The Radswiki ◉

Disclosures:

At the time the article was created The Radswiki had no recorded disclosures.

View The Radswiki's current disclosures

Last revised:

12 Oct 2023, Henry Atkinson

Disclosures:

At the time the article was last revised Henry Atkinson had no financial relationships to ineligible companies to disclose.

View Henry Atkinson's current disclosures

Revisions:

11 times, by 10 contributors - see full revision history and disclosures

Systems:

Musculoskeletal, Paediatrics, Obstetrics

Sections:

Syndromes

Tags:

cases, syndrome

Synonyms:

Ellis-van Creveld syndrome
Ellis-van Creveld syndrome (EVC)
Chondral and ectodermal dysplasia
Chondro-ectodermal dysplasia
Mesoectodermal dysplasia

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.

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

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) ⁸and the Dutch pediatric hematologist Simon van Creveld (1894-1971) ⁷ who first described their eponymous syndrome in 1940 ².