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).
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0018234
dysostosis
is_a
MONDO:0019054
congenital limb malformation
is_a
MONDO:0019287
ectodermal dysplasia syndrome
is_a
MONDO:0020242
hereditary macular dystrophy
is_a
EEM syndrome
exact
EEMS
related
ectodermal dysplasia, ectrodactyly, and macular dystrophy
related
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
related
ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome
exact