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GTR Home > Conditions/Phenotypes > EEM syndrome

EEM syndrome

Synonyms
Ectodermal dysplasia, ectrodactyly, and macular dystrophy
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

EEM syndrome (EEMS) denotes a disorder characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy. The ectodermal dysplasia consists of hypotrichosis affecting scalp hair, eyebrows, and eyelashes, with partial anodontia. Different degrees of absence deformities as well as syndactyly have been described, the hands often being more severely affected than the feet. The retinal lesion appears 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 (summary by Kjaer et al., 2005). [from OMIM]

Available tests

28 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (28 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDHP, HJMD, PCAD, CDH3
    Summary: cadherin 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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