Ectodermal dysplasia, ectrodactyly, and macular dystrophy

Definition:

Ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM syndrome) is the rare association of several clinical features caused by defects in CDH3. The ectodermal defect is characterized by hypotrichosis with sparse and short scalp hair, eyebrows, and eyelashes. Digit deficiency/syndactyly in hands is often more severe than the feet. Bilateral retinal degeneration appears as prominent pigmentation of the retina.

References:

[1]. K W Kjaer, et al. Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome). J Med Genet. 2005 Apr;42(4):292-8. [Content Brief]

[2]. Manuela Priolo, et al. Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms. Am J Med Genet A. 2009 Sep;149A(9):2003-13. [Content Brief]

[3]. Y Senecky, et al. Ectodermal dysplasia, ectrodactyly and macular dystrophy (EEM syndrome) in siblings. Am J Med Genet. 2001 Jul 1;101(3):195-7. [Content Brief]

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