EEM syndrome

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EEM syndrome

Synonyms: Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome

A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair eyebrows and eyelashes and partial anodontia) ectrodactyly and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities polydactyly syndactyly or camptodactyly) have also been described the hands often being more severely affected than the feet.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version October 2023.

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EEM syndrome?

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