Chondroectodermal 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.

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 post axial
• 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 fusion
  • 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

It 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.

Associations

• congenital cardiac anomalies: may be present in up to ~50% of cases

History and etymology

It is named after Richard W B Ellis of Edinburgh and Simon van Creveld of Amsterdam who first described the syndrome in 1940 ².