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Up to: Congenital nervous system disorder · Dysostosis · Hereditary macular dystrophy · Congenital limb malformation · Ectodermal dysplasia syndrome

EEM syndrome

EEM syndrome is characterized by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).

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This condition has no sub-types.