Ellis van Creveld Syndrome

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Introduction

Ellis van Creveld Syndrome is a rare autosomal recessive chondrodysplasia characterized by chondroectodermal dysplasia and congenital cardiac defects[1]. It was described by the two named authors in 1940. [2] It was reported to occur in all ethnic groups but is most prevalent in the Amish population of Lancaster, Pennsylvania.

Characteristics

The syndrome is characterized by chondrodystrophic dwarfism, postaxial polydactyly of the hands, hypoplastic nails, thin hair and abnormal teeth. The majority of cardiac defects of endocardial cushion closure, including ostium primum defects of widely varying size up to a single atrium. Coarctation of the Aorta, Hypoplastic Left Heart, and Patent Ductus Arteriosus occur in about 20% of cases and secundum-type Atrial Septal Defects have also beem described [3]

References

  1. McKusick VA, Egeland JA, Eldridge R et al. Dwarfism in the Amish: I. The Ellis–van Creveld syndrome. Bull John Hopkins Hosp 1964;115:306.
  2. Ellis RWB, van Creveld S. A syndrome characterized by ectodermal dysplasia, polydactyly, chondrodysplasia, and congenital morbus cordis: report of three cases. Arch Dis Child 1940;15:65–84.
  3. Katsourasa CS, Thomadakis C, Michalis L International Journal of Cardiology 87 (2003) 315–316
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