Ectodermal dysplasia - ectrodactyly - macular dystrophy

Genes: 

Sinonimo: 

EEM syndrome

Tipo de test: 

Tiempo de espera: 

35 dias

Más información

EEM syndrome is characterised 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).

Fuente: 

Tomado de Orphanet

Prevalencia: 

<1 / 1 000 000

Herencia: 

Autosomal recessive