EEC syndrome

MONDO:0010004

EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).

Also known as: Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate, ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome, ectrodactyly-ectodermal dysplasia-cleft syndrome, RUDIGER syndrome, ectrodactyly-cleft lip/palate syndrome, ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate, ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome

2 clinical trials for this condition and its sub-types, 1 tagged with EEC syndrome itself.

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Where it sits in the disease tree

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Part of

↑ Syndromic disease (7158) ↑ Disorder of visual system (3489) ↑ Autosomal dominant disease (699) ↑ Dysostosis (85) ↑ Congenital limb malformation (61)

Sub-types of EEC syndrome

Including sub-types (2) Tagged with EEC syndrome (1)

Trials to join now! 1

Scientists hunt for biomarkers to unlock rare eye disease treatments

Knowledge-focused Recruiting now

This study aims to find biological markers (biomarkers) in blood, tears, and eye cells from 110 adults with seven rare eye diseases. Researchers will compare these markers between patients and healthy controls to see if they differ and if they relate to disease symptoms. The goal…

Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Knowledge-focused

Last updated Jul 09, 2026 00:00 UTC

EEC syndrome

Where it sits in the disease tree

Scientists hunt for biomarkers to unlock rare eye disease treatments