EEM syndrome
MONDO:0009155EEM syndrome is characterized 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).
Also known as: EEM syndrome, ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome, EEMS, ectodermal dysplasia, ectrodactyly, and macular dystrophy, ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
26 clinical trials for this condition and its sub-types, 0 tagged with EEM syndrome itself.
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VR headsets tested as a possible treatment for blindness
Disease control Stopped earlyThis study tested whether using a virtual reality headset for one-hour sessions could help regenerate damaged optic nerves and improve vision in people with glaucoma or other retinal diseases. The idea came from promising results in rodents. However, the trial was terminated earl…
Sponsor: Stanford University • Aim: Disease control
Last updated Jun 27, 2026 08:03 UTC
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Scientists dig into DNA to unravel rare eye disorders
Knowledge-focused Stopped earlyThis study looked at over 100 people with inherited retinal dystrophies, a group of rare eye diseases that can cause vision loss. Researchers collected genetic and eye exam data to find links between specific gene mutations and symptoms. The goal was to better understand these di…
Sponsor: Fondation Ophtalmologique Adolphe de Rothschild • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:03 UTC