EEM syndrome

EEM syndrome is a rare disorder characterized by a combination of ectodermal dysplasia, ectrodactyly, and macular dystrophy. It has been described in individuals from seven families. This indicates that the features of the condition can be diverse and may include abnormalities related to the skin, hair, teeth, and eyes. In addition to the core features, reports have noted issues such as sparse hair (hypotrichosis), dental anomalies, and absent eyebrows. While the number of cases documented in the literature is small, these findings help define the typical presentation of the syndrome for people with this condition.

Common symptoms include ectodermal dysplasia (affecting skin, hair, and teeth), ectrodactyly (abnormal formation of fingers or toes), and macular dystrophy which impacts vision. Other reported signs are sparse hair (hypotrichosis), dental anomalies, and absent eyebrows.

EEM syndrome appears to be transmitted as an autosomal recessive trait. It may be caused by mutations in the CDH3 gene, which is located on chromosome 16q22.1. This genetic mutation affects the normal development of tissues derived from the ectoderm.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.