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GENATLAS PHENOTYPE
last update : 16-07-2018
Symbol EEM
Location 16q22.1
Name ectodermal dysplasia, ectrodactyly, macular dystrophy
Other name(s) EEM syndrome
Corresponding gene CDH3
Other symbol(s) EEMS
Main clinical features
  • hypotrichosis, dental anomalies, syndactyly, and retinal changes with prominent pigmentation in the posterior pole of the retina
  • associated with syndactyly or cleft hand or both, and macular dystrophy which was presumed to be progressive
    • Genetic determination autosomal recessive
    Function/system disorder dermatology
    eye
    osteo-articular
    Type disease
    Gene product
    Name cadherin 3, type 1, P-cadherin
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   truncated protein  
    Remark(s)