Abstract
Focal dermal hypoplasia is an X-linked dominant genetic disorder predominantly affecting females, caused by loss-of-function variants in the PORCN gene, characterized by ectodermal, skeletal, craniofacial and ocular structural abnormalities. We report three cases with de novo novel variants, and performed a comprehensive review of the clinical features of this disorder focusing on Asian patients, and identified significant differences compared with previous literature focusing on Caucasian patients. Cleft lip and palate is a frequently reported feature in Asian patients, but not in Caucasians. This improves the understanding of this rare disease in particular ethnic-specific differences.
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