Ellis-van Creveld Syndrome (EVC, Chondroectodermal Dysplasia) is a rare genetic disorder that arise from several pathogenic variants.
Affected genes include:
(1) DYNC2H1 (biallelic), 11q22.3
(2) DYNC2L11 (biallelic); 2p21
(3) EVC (biallelic); 4p16.2
(4) EVC2 (biallelic); 4p16.2
(5) GLI1 (biallelic); 12q13.3
(6) SMO (biallelic); 7q32.1
(7) WDR35 (biallelic); 2p24.1
(8) PRKACA (heterozygous); 19p13.12
(9) PRKACB (heterozygous)' 1p31.1
Inheritance: autosomal recessive
Clinical features may include:
(1) postaxial polydactyly of the hands with or without postaxial polydactyly of the feet
(2) short limbs
(3) disproportionate short stature
(4) dystrophic and/or hypoplastic nails
(5) congenital heart disease
(6) oral abnormalities (hypodontia, delayed dental eruption, abnormal frenulum, upper lip defects, other)
(7) variable genu valgum
(8) narrow chest with restrictive lung disease
(9) variable developmental delay
(10) variable brachydactyly
(11) variable genitourinary malformations
(12) variable hearing loss
Radiographic changes include:
(1) short tubular bones
(2) cone-shaped epiphyses of phalanges
(3) bulbous ends of the proximal ulnae and distal radii
(4) carpal and metacarpal fusions
(5) small iliac crests
(6) acetabular spurs
(7) lateral slanting of the tibial plateau
