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5 Facts you should know about

ADULT Syndrome

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1

The syndrome arises from a mutation in the TP63 gene

2

Key symptoms include ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling

3

Other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia

4

The lack of facial clefting and ankyloblepharon are important because they exist in ectrodactyly–ectodermal dysplasia–cleft syndrome (EEC) but not in ADULT syndrome

5

Estimated US prevalence is <1,000

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