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Ellis-van Creveld disease

MIM.225500

Wednesday 1 October 2003

Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately 150 cases reported worldwide. The exact prevalence is unknown, but the syndrome seems more common among the Amish community.

Prenatal abnormalities (that may be detected by ultrasound examination) include narrow thorax, shortening of long bones, hexadactyly and cardiac defects.

After birth, cardinal features are short stature, short ribs, polydactyly, and dysplastic fingernails and teeth. Heart defects, especially abnormalities of atrial septation, occur in about 60% of cases. Cognitive and motor development is normal. This rare condition is inherited as an autosomal recessive trait with variable expression.

Mutations of the EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p16, have been identified as causative.

EVC belongs to the short rib-polydactyly group (SRP)

Synopsis

- acromelic dwarfism (short-limb dwarfism identifiable at birth - average adult height=109 to 152 cm)
- ectodermal dysplasia
- oral anomalies

  • partial harelip (fusion of the upper lip to the gingival margin)
  • defect in alveolar ridge
  • neonatal teeth
  • hypodontia
  • delayed eruption
  • multiple frenula
  • abnormally shaped and microdontic teeth
  • congenitally missing teeth

- cardiac anomalies

- thoracic parietal anomalies

- genital anomalies

- limb anomalies

  • low iliac wings
  • spur-like projections at medialateral aspect of acetabula
  • centrifugal shortening of limbs
  • fusion of capitate and hamate
  • genu valgum
  • short, thickened tubular bones
  • difficulty forming a fist
  • postaxial polydactyly
  • cone-shaped epiphyses of phalanges 2 to 5
  • talipes equinovarus
  • postaxial polydactyly fingers/toes
  • nail dysplasia
  • dandy-Walker malformation

- renal anomalies

  • glomerulopathy with nephrotic syndrome

- hepatic anomalies

Association

- hydrometrocolpos (not linked to chromosome arm 4p or 20p) (15054850)
- thymic hypoplasia (12538281)
- nephronophtisis (9502561)
- situs inversus totalis (#5770269 #)

Cytogenetics

- segmental uniparental disomy of chromosome 4

Etiology

- mutations in EVC gene at 4p16 (MIM.604831)
- mutations in EVC2 gene at 20p (MIM.607261) (12571802, 12468274)
- other loci

Differential diagnosis

- short rib-polydactyly syndromes (or short rib-polydactyly group diseases or SRPs)

  • type III (Verma-Naumoff syndrome)

- Jeune syndrome
- McKusick-Kaufman syndrome
- Weyers syndrome

Reviews

- Baujat G, Le Merrer M. Ellis-Van Creveld syndrome. Orphanet J Rare Dis. 2007 Jun 4;2:27. PMID: 17547743

References

- Erzen M, Stanescu R, Stanescu V, Maroteaux P.Comparative histopathology of the growth cartilage in short-rib polydactyly syndromes type I and type III and in chondroectodermal dysplasia.Ann Genet. 1988;31(3):144-50. PMID: 2464965

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