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EEM syndrome
rareEEM 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).
- Identifiers
- MONDO:0009155 OMIM:225280Orphanet:1897
- Causal genes
- CDH3
- Part of
- Congenital limb malformationCongenital nervous system disorderDysostosisEctodermal dysplasia syndromeHereditary macular dystrophy
- Also known as
- ectodermal dysplasia, ectrodactyly, and macular dystrophy · ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome · ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome · EEMS
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