EEM syndrome

MONDO:0009155

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).

Also known as: EEM syndrome, ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome, EEMS, ectodermal dysplasia, ectrodactyly, and macular dystrophy, ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome

26 clinical trials for this condition and its sub-types, 0 tagged with EEM syndrome itself.

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Part of

↑ Congenital nervous system disorder (284) ↑ Dysostosis (85) ↑ Hereditary macular dystrophy (70) ↑ Congenital limb malformation (61) ↑ Ectodermal dysplasia syndrome (45)

Including sub-types (26) Tagged with EEM syndrome (0)

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