What question did this study set out to answer?

To document a unique case of EEC syndrome exhibiting complete triad and specific ocular anomalies.

April 5, 2026BMJ Case Reports0 citations

Microphthalmos, rudimentary iris tissue, fundal coloboma and anophthalmos in ectrodactyly ectodermal dysplasia cleft lip/palate syndrome

AKAnmol Kar BPBijnya Birajita Panda SPSucheta Parija

Key Points

To document a unique case of EEC syndrome exhibiting complete triad and specific ocular anomalies.
Case report detailing the clinical features of the patient.
Assessment of ocular anomalies including microphthalmos and coloboma.
Comparison with existing literature on EEC syndrome.
Patient displayed complete triad of ectrodactyly, cleft lip/palate, and ectodermal dysplasia.
Ocular findings included microphthalmos, rudimentary iris tissue, fundal coloboma, and anophthalmos.
These observations highlight the rarity of intraocular involvement in EEC syndrome.

Abstract

Ectrodactyly–ectodermal dysplasia–cleft lip/palate (EEC) syndrome presents with the triad of claw-like hand/feet, ectodermal dysplasia and cleft lip/palate. Presentation with the complete triad is rare. Involvement of intraocular tissues has rarely been reported. Here we report a case of EEC syndrome with complete triad, microphthalmos, rudimentary iris tissue, fundal coloboma and anophthalmos.

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