Ectrodactyly–ectodermal Dysplasia–cleft Syndrome

Ectrodactyly–ectodermal dysplasia–cleft syndrome, or EEC, and also referred to as EEC syndrome (also known as "Split hand–split foot–ectodermal dysplasiacleft syndrome") is a rare form of ectodermal dysplasia, an autosomal dominant disorder inherited as an genetic trait. EEC is characterized by the triad of ectrodactyly, ectodermal dysplasia, and Facial Clefts. Other features noted in association with EEC include vesicoureteral reflux, recurrent urinary tract infections, obstruction of the nasolacrimal duct, decreased pigmentation of the hair and skin, missing or abnormal teeth, enamel hypoplasia, absent punctae in the lower eyelids, photophobia, occasional cognitive impairment and kidney anomalies, and conductive hearing loss.

Read more about Ectrodactyly–ectodermal Dysplasia–cleft Syndrome:  Ectrodactyly, Ectodermal Dysplasia, Facial Clefting, Speech Deficits, Embryology, Current Research, Conclusion

Other articles related to "syndrome, syndromes":

Ectrodactyly–ectodermal Dysplasia–cleft Syndrome - Conclusion
... is necessary to identify and rule out other possible loci contributing to EEC syndrome, though it seems certain that disruption of the p63 gene is involved to some extent ... In addition, genetic research with an emphasis on genetic syndrome differentiation should prove to be very useful in distinguishing between syndromes that present with ... clinical diagnosis and treatment of not only EEC, but also many other related syndromes ...

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