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5 Facts you should know about
ADULT Syndrome
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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